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.T340I

c.1019C>T

Surrounding Variants

1 paper

NM_001904.4

p.T340R

c.1019C>G

6 papers

NM_001904.4

p.T340A

c.1018A>G

1 paper

NM_001904.4

p.S341G

c.1021A>G

2 papers

NM_001904.4

p.T339I

c.1016C>T

1 paper

NM_001904.4

p.T339_S341delFs

c.1017_1021del5

2 papers

NM_001904.4

p.T339_R342delins

c.1016_1025delinsT

2 papers

NM_001904.4

p.S341N

c.1022G>A

1 paper

NM_001904.4

p.S341T

c.1022G>C

3 papers

NM_001904.4

p.T339A

c.1015A>G

1 paper

NM_001904.4

p.R342fs

c.1024_1025fs

1 paper

NM_001904.4

p.R342G

c.1024A>G

7 papers

NM_001904.4

p.R342*

c.1024A>T