Warning: The NCBI web site requires JavaScript to function. more...

MedGen

National Center for Biotechnology Information

Search results

Items: 5

The following term was not found in MedGen: circle.com.

Select item 17921921.

A change in the amino acid residue at position 34 in the catenin beta-1 protein where glycine has been replaced by valine. [from NCI]

MedGen UID:: 1792192
•Concept ID:: C5555751
•: Cell or Molecular Dysfunction

GTR
ClinVar
Genes
OMIM
GeneReviews

Select item 17921902.

CTNNB1 NP_001895.1:p.G34R

A change in the amino acid residue at position 34 in the catenin beta-1 protein where glycine has been replaced by arginine. [from NCI]

MedGen UID:: 1792190
•Concept ID:: C5555749
•: Cell or Molecular Dysfunction

GTR
ClinVar
Genes
OMIM
GeneReviews

Select item 3484583.

CTNNB1 NP_001895.1:p.G34E

A change in the amino acid residue at position 34 in the catenin beta-1 protein where glycine has been replaced by glutamic acid. [from NCI]

MedGen UID:: 348458
•Concept ID:: C1861813
•: Cell or Molecular Dysfunction

GTR
ClinVar
Genes
OMIM
GeneReviews

Select item 17141054.

ABL1 NP_005148.2:p.A34V

A change in the amino acid residue at position 34 in the tyrosine-protein kinase ABL1 protein where alanine has been replaced by valine. [from NCI]

MedGen UID:: 1714105
•Concept ID:: C5236028
•: Cell or Molecular Dysfunction

GTR
ClinVar
Genes
OMIM
GeneReviews

Select item 17175225.

U2AF1 NP_006749.1:p.S34X

A change in the amino acid residue at position 34 in the splicing factor U2AF 35 kDa subunit protein where serine has been replaced by another amino acid. [from NCI]