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

3 papers

NM_001904.4

p.D207G

c.620A>G

Surrounding Variants

1 paper

NM_001904.4

p.D207N

c.619G>A

1 paper

NM_001904.4

p.D207H

c.619G>C

2 papers

NM_001904.4

p.V208I

c.622G>A

1 paper

NM_001904.4

p.V208L

c.622G>T

1 paper

NM_001904.4

p.V208delFs

c.623delT

1 paper

NM_001904.4

p.N206S

c.617A>G

5 papers

NM_001904.4

p.N206I

c.617A>T

1 paper

NM_001904.4

p.V208A

c.623T>C

1 paper

NM_001904.4

p.V208_E209insFs

c.624_625insA

1 paper

NM_001904.4

p.D207ins1

c.619_620insATG

1 paper

NM_001904.4

p.N206D

c.616A>G

1 paper

NM_001904.4

p.E209K

c.625G>A