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.S129P

c.385T>C

Surrounding Variants

1 paper

NM_001904.4

p.S129A

c.385T>G

1 paper

NM_001904.4

p.Q130delFs

c.388_389delCA

2 papers

NM_001904.4

p.P128P

c.384A>G

1 paper

NM_001904.4

p.S129*

c.386C>A

1 paper

NM_001904.4

p.S129*

c.386C>G

2 papers

NM_001904.4

p.S129L

c.386C>T

1 paper

NM_001904.4

p.S129_Q130insFs

c.387_388insC

1 paper

NM_001904.4

p.S129S

c.387A>C

1 paper

NM_001904.4

p.S129S

c.387A>G

1 paper

NM_001904.4

p.Q130_L132del3

c.388_395del9

3 papers

NM_001904.4

p.P128L

c.383C>T

1 paper

NM_001904.4

p.P128T

c.382C>A