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.T40T

c.120T>C

Surrounding Variants

3 papers

NM_001904.4

p.T40T

c.120T>A

2 papers

NM_001904.4

p.T41del1

c.121_122delACC

27 papers

NM_001904.4

p.T41P

c.121A>C

496 papers

NM_001904.4

p.T41A

c.121A>G

19 papers

NM_001904.4

p.T41S

c.121A>T

1 paper

NM_001904.4

p.T41_G48del0

c.122_142del21

1 paper

NM_001904.4

p.T41_G50del0

c.122_148del27

1 paper

NM_001904.4

p.T41_E53del0

c.122_157del36

1 paper

NM_001904.4

p.T40S

c.119C>G

14 papers

NM_001904.4

p.T40I

c.119C>T

1 paper

NM_001904.4

p.T41_N51del0

c.121_153del33

1 paper

NM_001904.4

p.T40insFs

c.118_119insAC