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.Q92_G106del15

c.274_317del45

Surrounding Variants

1 paper

NM_001904.4

p.A91A

c.273T>C

7 papers

NM_001904.4

p.Q92*

c.274C>T

2 papers

NM_001904.4

p.A91V

c.272C>T

1 paper

NM_001904.4

p.Q92R

c.275A>G

2 papers

NM_001904.4

p.A91T

c.271G>A

1 paper

NM_001904.4

p.A91S

c.271G>T

1 paper

NM_001904.4

p.A91_A96del6

c.271_287del18

1 paper

NM_001904.4

p.A91_F99del9

c.271_296del27

1 paper

NM_001904.4

p.R93_D104del12

c.277_311del36

1 paper

NM_001904.4

p.R93G

c.277A>G

2 papers

NM_001904.4

p.R93W

c.277A>T

1 paper

NM_001904.4

p.R93_V94delFs

c.278_281del4