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

8 papers

NM_001904.4

p.A39V

c.116C>T

Surrounding Variants

1 paper

NM_001904.4

p.A39D

c.116C>A

6 papers

NM_001904.4

p.A39G

c.116C>G

1 paper

NM_001904.4

p.A39_G50del0

c.117_149del33

1 paper

NM_001904.4

p.A39A

c.117C>T

1 paper

NM_001904.4

p.T40_S47del0

c.119_139del21

9 papers

NM_001904.4

p.A39T

c.115G>A

1 paper

NM_001904.4

p.A39fs

c.115_116fs

3 papers

NM_001904.4

p.A39fs

c.115_116fs

1 paper

NM_001904.4

p.T40_T42del0

c.120_125del6

1 paper

NM_001904.4

p.T40insFs

c.118_119insAC

4 papers

NM_001904.4

p.T40P

c.118A>C

7 papers

NM_001904.4

p.T40A

c.118A>G