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.K345N

c.1035G>T

Surrounding Variants

1 paper

NM_001904.4

p.K345N

c.1035G>C

7 papers

NM_001904.4

p.K345R

c.1034A>G

1 paper

NM_001904.4

p.K345_V349del0

c.1035_1046del12

1 paper

NM_001904.4

p.V346M

c.1036G>A

1 paper

NM_001904.4

p.V346_S348delFs

c.1038_1044del7

1 paper

NM_001904.4

p.K345Q

c.1033A>C

1 paper

NM_001904.4

p.K345E

c.1033A>G

1 paper

NM_001904.4

p.K345_S351delFs

c.1034_1053del20

2 papers

NM_001904.4

p.V346A

c.1037T>C

1 paper

NM_001904.4

p.L347_S352delFs

c.1039_1055del17

1 paper

NM_001904.4

p.L344L

c.1032G>A

1 paper

NM_001904.4

p.K345_S352del0

c.1034_1054del21