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

5 papers

NM_001904.4

p.D56N

c.166G>A

Surrounding Variants

1 paper

NM_001904.4

p.D56Y

c.166G>T

2 papers

NM_001904.4

p.D56G

c.167A>G

1 paper

NM_001904.4

p.E55G

c.164A>G

5 papers

NM_001904.4

p.E55K

c.163G>A

3 papers

NM_001904.4

p.V57M

c.169G>A

1 paper

NM_001904.4

p.E55Q

c.163G>C

3 papers

NM_001904.4

p.E55*

c.163G>T

1 paper

NM_001904.4

p.E54D

c.162A>C

1 paper

NM_001904.4

p.E54D

c.162A>T

1 paper

NM_001904.4

p.V57E

c.170T>A

2 papers

NM_001904.4

p.V57A

c.170T>C

1 paper

NM_001904.4

p.V57_D58insFs

c.171_172insG