Varaico: Literature-Extracted Genetic Variants

CTBP1

104 papers

RefSeq Summary

This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein ...

Pfam Domains

2-Hacid_dhaa 19–341UCSCD-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain

2-Hacid_dh_Caa 122–306UCSCD-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain

Gene Aliases

HGNC Name

C-terminal binding protein 1

HGNC Alias Symbol

BARS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 72 variants

16 papers

NM_001012614.2

p.R331W

c.991C>T

10 papers

NM_001328.3

p.R342W

c.1024C>T

3 papers

NM_001328.3

p.S124F

c.371C>T

3 papers

NM_001012614.2

p.D355A

c.1064A>C

3 papers

NM_001328.3

p.Q439delFs

c.1315_1316delTG

2 papers

NM_001012614.2

p.G61G

c.183G>A

2 papers

NM_001012614.2

p.L70L

c.210C>G

2 papers

NM_001328.3

p.Q439fs

c.1315_1316fs

1 paper

NM_001012614.2

p.M1insFs

c.2dupT

1 paper

NM_001012614.2

p.G3S

c.7G>A

1 paper

NM_001012614.2

p.G3D

c.8G>A

1 paper

NM_001012614.2

p.M9V

c.25A>G