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

7 papers

NM_001904.4

p.S47N

c.140G>A

Surrounding Variants

1 paper

NM_001904.4

p.S47T

c.140G>C

6 papers

NM_001904.4

p.S47R

c.139A>C

2 papers

NM_001904.4

p.S47G

c.139A>G

1 paper

NM_001904.4

p.S47Fs

c.139delinsTTFs

1 paper

NM_001904.4

p.S47delins

c.139_140delinsCT

2 papers

NM_001904.4

p.S47fs

c.139_140fs

2 papers

NM_001904.4

p.G48del1

c.142_143delGGT

6 papers

NM_001904.4

p.S47R

c.141T>A

7 papers

NM_001904.4

p.S47R

c.141T>G

4 papers

NM_001904.4

p.L46L

c.138G>A

2 papers

NM_001904.4

p.G48S

c.142G>A

2 papers

NM_001904.4

p.G48R

c.142G>C