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.N353S

c.1058A>G

Surrounding Variants

1 paper

NM_001904.4

p.N353D

c.1057A>G

1 paper

NM_001904.4

p.K354Q

c.1060A>C

2 papers

NM_001904.4

p.K354E

c.1060A>G

1 paper

NM_001904.4

p.N353_E359del7

c.1057_1076del21

1 paper

NM_001904.4

p.K354T

c.1061A>C

5 papers

NM_001904.4

p.K354R

c.1061A>G

1 paper

NM_001904.4

p.K354M

c.1061A>T

1 paper

NM_001904.4

p.K354delFs

c.1062delG

5 papers

NM_001904.4

p.S352N

c.1055G>A

1 paper

NM_001904.4

p.S352insFs

c.1056dupT

2 papers

NM_001904.4

p.S352fs

c.1054_1055fs

1 paper

NM_001904.4

p.S352G

c.1054A>G