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.S184_R185delFs

c.552_555del4

Surrounding Variants

1 paper

NM_001904.4

p.S184F

c.551C>T

2 papers

NM_001904.4

p.S184P

c.550T>C

1 paper

NM_001904.4

p.R185fs

c.553_554fs

1 paper

NM_001904.4

p.R185G

c.553A>G

1 paper

NM_001904.4

p.A183V

c.548C>T

1 paper

NM_001904.4

p.R185K

c.554G>A

1 paper

NM_001904.4

p.H186insFs

c.556dupC

2 papers

NM_001904.4

p.R185R

c.555A>G

5 papers

NM_001904.4

p.A183T

c.547G>A

1 paper

NM_001904.4

p.A183P

c.547G>C

3 papers

NM_001904.4

p.A183S

c.547G>T

1 paper

NM_001904.4

p.H186N

c.556C>A