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

4 papers

NM_001904.4

p.R90Q

c.269G>A

Surrounding Variants

1 paper

NM_001904.4

p.R90L

c.269G>T

1 paper

NM_001904.4

p.A91_A96del6

c.271_287del18

1 paper

NM_001904.4

p.A91_F99del9

c.271_296del27

7 papers

NM_001904.4

p.R90*

c.268C>T

1 paper

NM_001904.4

p.R90fs

c.268_269fs

2 papers

NM_001904.4

p.A91T

c.271G>A

1 paper

NM_001904.4

p.A91S

c.271G>T

1 paper

NM_001904.4

p.R90_R93del4

c.268_278del12

1 paper

NM_001904.4

p.R90_M98del9

c.268_293del27

4 papers

NM_001904.4

p.T89I

c.266C>T

2 papers

NM_001904.4

p.A91V

c.272C>T

1 paper

NM_001904.4

p.T89insFs

c.266dupC