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

2 papers

NM_001904.4

p.A117T

c.349G>A

Surrounding Variants

2 papers

NM_001904.4

p.A117P

c.349G>C

1 paper

NM_001904.4

p.A117V

c.350C>T

1 paper

NM_001904.4

p.A116A

c.348T>G

1 paper

NM_001904.4

p.A116D

c.347C>A

1 paper

NM_001904.4

p.A116V

c.347C>T

1 paper

NM_001904.4

p.H118_T120delFs

c.353_359del7

2 papers

NM_001904.4

p.H118Y

c.352C>T

3 papers

NM_001904.4

p.A116T

c.346G>A

1 paper

NM_001904.4

p.A116P

c.346G>C

2 papers

NM_001904.4

p.H118R

c.353A>G

1 paper

NM_001904.4

p.D115V

c.344A>T

1 paper

NM_001904.4

p.D115_P119delFs

c.345_357del13