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

2 papers

NM_001904.4

p.P100P

c.300T>A

Surrounding Variants

1 paper

NM_001904.4

p.P100P

c.300T>G

1 paper

NM_001904.4

p.P100H

c.299C>A

1 paper

NM_001904.4

p.P100L

c.299C>T

1 paper

NM_001904.4

p.E101_D115del15

c.301_344del45

1 paper

NM_001904.4

p.E101K

c.301G>A

1 paper

NM_001904.4

p.E101*

c.301G>T

3 papers

NM_001904.4

p.T102_Q113del12

c.304_338del36

1 paper

NM_001904.4

p.E101G

c.302A>G

1 paper

NM_001904.4

p.P100fs

c.298_299fs

2 papers

NM_001904.4

p.P100S

c.298C>T

2 papers

NM_001904.4

p.P100delFs

c.299_300delCT

3 papers

NM_001904.4

p.P100fs

c.298_299fs