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.A43_P44ins0

c.127_132dup6

Surrounding Variants

1 paper

NM_001904.4

p.T42T

c.126A>G

1 paper

NM_001904.4

p.T42T

c.126A>T

1 paper

NM_001904.4

p.A43del1

c.127_129delGCT

1 paper

NM_001904.4

p.A43_G48del0

c.128_142del15

1 paper

NM_001904.4

p.A43_E54del0

c.128_160del33

5 papers

NM_001904.4

p.T42R

c.125C>G

12 papers

NM_001904.4

p.T42I

c.125C>T

1 paper

NM_001904.4

p.T42Fs

c.125delinsTTFs

1 paper

NM_001904.4

p.T42_P44delFs

c.126_132del7

8 papers

NM_001904.4

p.A43T

c.127G>A

6 papers

NM_001904.4

p.A43P

c.127G>C

3 papers

NM_001904.4

p.P44del1

c.130_131delCCT