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.T112S

c.334A>T

Surrounding Variants

1 paper

NM_001904.4

p.T112P

c.334A>C

2 papers

NM_001904.4

p.T112A

c.334A>G

1 paper

NM_001904.4

p.T112R

c.335C>G

1 paper

NM_001904.4

p.T112I

c.335C>T

1 paper

NM_001904.4

p.T112delFs

c.334delA

1 paper

NM_001904.4

p.T112delFs

c.335_336delCA

2 papers

NM_001904.4

p.S111F

c.332C>T

5 papers

NM_001904.4

p.Q113*

c.337C>T

2 papers

NM_001904.4

p.S111P

c.331T>C

2 papers

NM_001904.4

p.S111A

c.331T>G

1 paper

NM_001904.4

p.S111_T112ins15

c.331_335ins45

1 paper

NM_001904.4

p.T112_A117del6

c.334_350del18