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.V199I

c.595G>A

Surrounding Variants

1 paper

NM_001904.4

p.V199L

c.595G>C

1 paper

NM_001904.4

p.V199L

c.595G>T

1 paper

NM_001904.4

p.V199E

c.596T>A

2 papers

NM_001904.4

p.V199A

c.596T>C

1 paper

NM_001904.4

p.I198T

c.593T>C

1 paper

NM_001904.4

p.I198V

c.592A>G

4 papers

NM_001904.4

p.I198F

c.592A>T

1 paper

NM_001904.4

p.I198_V199delFs

c.593_596del4

1 paper

NM_001904.4

p.R200C

c.598C>T

1 paper

NM_001904.4

p.R200P

c.599G>C

1 paper

NM_001904.4

p.R200_T201delFs

c.600_601delTA

1 paper

NM_001904.4

p.A197insFs

c.590_591insTA