Varaico: Literature-Extracted Genetic Variants

CTNNB1

5,172 papers

RefSeq Summary

The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating c...

Pfam Domains

Armaa 224–264UCSCArmadillo/beta-catenin-like repeat

Armaa 350–390UCSCArmadillo/beta-catenin-like repeat

Armaa 431–473UCSCArmadillo/beta-catenin-like repeat

Armaa 583–623UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

catenin beta 1

HGNC Alias Symbols

beta-catenin; armadillo

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001904.4

p.Q395delFs

c.1184_1185delAG

Surrounding Variants

4 papers

NM_001904.4

p.Q395*

c.1183C>T

2 papers

NM_001904.4

p.Q395fs

c.1183_1184fs

1 paper

NM_001904.4

p.Q395R

c.1184A>G

1 paper

NM_001904.4

p.K394T

c.1181A>C

3 papers

NM_001904.4

p.K394R

c.1181A>G

1 paper

NM_001904.4

p.K394E

c.1180A>G

1 paper

NM_001904.4

p.Q395_E396Splc

c.1185+1G>C

1 paper

NM_001904.4

p.T393T

c.1179T>A

2 papers

NM_001904.4

p.T393I

c.1178C>T

2 papers

NM_001904.4

p.T393A

c.1177A>G

2 papers

NM_001904.4

p.A392V

c.1175C>T

3 papers

NM_001904.4

p.A392T

c.1174G>A