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.L382delFs

c.1146delT

Surrounding Variants

1 paper

NM_001904.4

p.L382F

c.1144C>T

1 paper

NM_001904.4

p.L382fs

c.1144_1145fs

1 paper

NM_001904.4

p.L382P

c.1145T>C

1 paper

NM_001904.4

p.L382_A392del0

c.1146_1175del30

2 papers

NM_001904.4

p.C381Y

c.1142G>A

1 paper

NM_001904.4

p.C381S

c.1142G>C

16 papers

NM_001904.4

p.W383R

c.1147T>A

1 paper

NM_001904.4

p.C381S

c.1141T>A

17 papers

NM_001904.4

p.W383R

c.1147T>C

1 paper

NM_001904.4

p.C381R

c.1141T>C

16 papers

NM_001904.4

p.W383G

c.1147T>G

1 paper

NM_001904.4

p.N380K

c.1140C>A