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.C573fs

c.1717_1718fs

Surrounding Variants

1 paper

NM_001904.4

p.C573F

c.1718G>T

1 paper

NM_001904.4

p.G572_T574delFs

c.1716_1722del7

1 paper

NM_001904.4

p.G572S

c.1714G>A

1 paper

NM_001904.4

p.T574N

c.1721C>A

1 paper

NM_001904.4

p.E571A

c.1712A>C

1 paper

NM_001904.4

p.E571G

c.1712A>G

2 papers

NM_001904.4

p.T574T

c.1722C>T

18 papers

NM_001904.4

p.G575R

c.1723G>A

2 papers

NM_001904.4

p.E571K

c.1711G>A

16 papers

NM_001904.4

p.G575R

c.1723G>C

1 paper

NM_001904.4

p.E571*

c.1711G>T

1 paper

NM_001904.4

p.G575*

c.1723G>T