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.K335E

c.1003A>G

Surrounding Variants

3 papers

NM_001904.4

p.K335fs

c.1003_1004fs

2 papers

NM_001904.4

p.K335Q

c.1003A>C

1 paper

NM_001904.4

p.K335fs

c.1003_1004fs

1 paper

NM_001904.4

p.K335_L336delFs

c.1005_1008del4

1 paper

NM_001904.4

p.K335Fs

c.1003delinsGAFs

27 papers

NM_001904.4

p.K335T

c.1004A>C

3 papers

NM_001904.4

p.K335R

c.1004A>G

54 papers

NM_001904.4

p.K335I

c.1004A>T

3 papers

NM_001904.4

p.K335N

c.1005A>C

1 paper

NM_001904.4

p.E334A

c.1001A>C

1 paper

NM_001904.4

p.E334G

c.1001A>G

1 paper

NM_001904.4

p.K335K

c.1005A>G