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.Q203H

c.609G>C

Surrounding Variants

1 paper

NM_001904.4

p.Q203H

c.609G>T

1 paper

NM_001904.4

p.N204D

c.610A>G

1 paper

NM_001904.4

p.N204S

c.611A>G

7 papers

NM_001904.4

p.Q203*

c.607C>T

2 papers

NM_001904.4

p.M202I

c.606G>A

2 papers

NM_001904.4

p.M202I

c.606G>C

2 papers

NM_001904.4

p.M202I

c.606G>T

1 paper

NM_001904.4

p.N204K

c.612T>G

1 paper

NM_001904.4

p.T205A

c.613A>G

1 paper

NM_001904.4

p.T205S

c.613A>T

3 papers

NM_001904.4

p.M202T

c.605T>C

1 paper

NM_001904.4

p.M202_Q203insT

c.604_608ins3