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.M14I

c.42G>T

Surrounding Variants

3 papers

NM_001904.4

p.M14I

c.42G>A

4 papers

NM_001904.4

p.M14I

c.42G>C

6 papers

NM_001904.4

p.E15K

c.43G>A

1 paper

NM_001904.4

p.E15Q

c.43G>C

2 papers

NM_001904.4

p.E15*

c.43G>T

1 paper

NM_001904.4

p.E15delFs

c.44delA

7 papers

NM_001904.4

p.E15delFs

c.44_45delAA

2 papers

NM_001904.4

p.E15_P16delFs

c.45_48del4

424 papers

NM_001904.4

p.M14K

c.41T>A

1 paper

NM_001904.4

p.E15A

c.44A>C

2 papers

NM_001904.4

p.M14V

c.40A>G

2 papers

NM_001904.4

p.E15G

c.44A>G