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.I590T

c.1769T>C

Surrounding Variants

1 paper

NM_001904.4

p.I590_R591insTA

c.1768_1772ins6

1 paper

NM_001904.4

p.I590fs

c.1768_1769fs

1 paper

NM_001904.4

p.R591G

c.1771A>G

1 paper

NM_001904.4

p.I590insFs

c.1768dupA

1 paper

NM_001904.4

p.R591K

c.1772G>A

1 paper

NM_001904.4

p.V589D

c.1766T>A

1 paper

NM_001904.4

p.V589A

c.1766T>C

1 paper

NM_001904.4

p.G592delFs

c.1774_1775delGG

3 papers

NM_001904.4

p.G592R

c.1774G>A

1 paper

NM_001904.4

p.G592R

c.1774G>C

1 paper

NM_001904.4

p.G592*

c.1774G>T

1 paper

NM_001904.4

p.G592E

c.1775G>A