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.W383_T384ins1

c.1149_1150insGAG

Surrounding Variants

3 papers

NM_001904.4

p.W383*

c.1148G>A

6 papers

NM_001904.4

p.W383S

c.1148G>C

1 paper

NM_001904.4

p.W383L

c.1148G>T

4 papers

NM_001904.4

p.W383*

c.1149G>A

10 papers

NM_001904.4

p.W383C

c.1149G>C

11 papers

NM_001904.4

p.W383C

c.1149G>T

16 papers

NM_001904.4

p.W383R

c.1147T>A

17 papers

NM_001904.4

p.W383R

c.1147T>C

16 papers

NM_001904.4

p.W383G

c.1147T>G

1 paper

NM_001904.4

p.T384A

c.1150A>G

3 papers

NM_001904.4

p.L385delFs

c.1154_1155delTC

1 paper

NM_001904.4

p.T384I

c.1151C>T