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.P373L

c.1118C>T

Surrounding Variants

3 papers

NM_001904.4

p.P373A

c.1117C>G

5 papers

NM_001904.4

p.P373S

c.1117C>T

1 paper

NM_001904.4

p.S374G

c.1120A>G

1 paper

NM_001904.4

p.D372G

c.1115A>G

1 paper

NM_001904.4

p.S374N

c.1121G>A

1 paper

NM_001904.4

p.D372H

c.1114G>C

1 paper

NM_001904.4

p.D372del1

c.1114_1116delGAT

1 paper

NM_001904.4

p.Q375*

c.1123C>T

1 paper

NM_001904.4

p.Q375R

c.1124A>G

1 paper

NM_001904.4

p.T371R

c.1112C>G

2 papers

NM_001904.4

p.T371I

c.1112C>T

1 paper

NM_001904.4

p.T371A

c.1111A>G