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.R200C

c.598C>T

Surrounding Variants

1 paper

NM_001904.4

p.R200P

c.599G>C

1 paper

NM_001904.4

p.R200_T201delFs

c.600_601delTA

1 paper

NM_001904.4

p.V199E

c.596T>A

2 papers

NM_001904.4

p.V199A

c.596T>C

3 papers

NM_001904.4

p.T201A

c.601A>G

1 paper

NM_001904.4

p.V199I

c.595G>A

1 paper

NM_001904.4

p.V199L

c.595G>C

1 paper

NM_001904.4

p.V199L

c.595G>T

1 paper

NM_001904.4

p.T201ins2

c.602_603ins6

2 papers

NM_001904.4

p.T201I

c.602C>T

1 paper

NM_001904.4

p.T201_M202insFs

c.603_604insG

1 paper

NM_001904.4

p.T201_M202Fs

c.603_605delinsAATAFs