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.S389P

c.1165T>C

Surrounding Variants

1 paper

NM_001904.4

p.S389L

c.1166C>T

12 papers

NM_001904.4

p.L388P

c.1163T>C

1 paper

NM_001904.4

p.L388F

c.1162C>T

1 paper

NM_001904.4

p.D390N

c.1168G>A

1 paper

NM_001904.4

p.D390insFs

c.1170dupT

1 paper

NM_001904.4

p.D390G

c.1169A>G

46 papers

NM_001904.4

p.N387K

c.1161T>A

46 papers

NM_001904.4

p.N387K

c.1161T>G

1 paper

NM_001904.4

p.L388_S389del2

c.1162_1166del6

1 paper

NM_001904.4

p.N387S

c.1160A>G

4 papers

NM_001904.4

p.N387I

c.1160A>T

1 paper

NM_001904.4

p.D390E

c.1170T>A