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

9 papers

NM_001904.4

p.A43V

c.128C>T

Surrounding Variants

2 papers

NM_001904.4

p.A43G

c.128C>G

1 paper

NM_001904.4

p.A43_L46delins

c.128_137delinsG

1 paper

NM_001904.4

p.P44_S47del4

c.130_140del12

1 paper

NM_001904.4

p.S45_P52del0

c.133_156del24

1 paper

NM_001904.4

p.A43_D56delFs

c.129_168del40

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

8 papers

NM_001904.4

p.P44_S45del2

c.130_134del6

1 paper

NM_001904.4

p.P44_E55del0

c.130_165del36

1 paper

NM_001904.4

p.A43_P44ins0

c.127_132dup6

1 paper

NM_001904.4

p.T42T

c.126A>G