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.L103_D104ins9

c.307_311ins27

Surrounding Variants

1 paper

NM_001904.4

p.L103fs

c.307_308fs

1 paper

NM_001904.4

p.L103delFs

c.307delT

3 papers

NM_001904.4

p.L103*

c.308T>A

1 paper

NM_001904.4

p.L103S

c.308T>C

2 papers

NM_001904.4

p.L103*

c.308T>G

1 paper

NM_001904.4

p.D104_I109del6

c.310_326del18

3 papers

NM_001904.4

p.T102I

c.305C>T

1 paper

NM_001904.4

p.T102A

c.304A>G

1 paper

NM_001904.4

p.D104N

c.310G>A

1 paper

NM_001904.4

p.D104Y

c.310G>T

1 paper

NM_001904.4

p.D104G

c.311A>G

1 paper

NM_001904.4

p.E101D

c.303G>C