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

Selected Variant

3 papers

NM_001012614.2

p.D355A

c.1064A>C

Surrounding Variants

1 paper

NM_001012614.2

p.A347_A348delins

c.1041_1044delinsT

1 paper

NM_001012614.2

p.A367V

c.1100C>T

19 papers

NM_001012614.2

p.R331W

c.991C>T

NM_001328.3

p.R342W

c.1024C>T

1 paper

NM_001012614.2

p.R326K

c.977G>A

1 paper

NM_001012614.2

p.V375V

c.1125G>T

1 paper

NM_001012614.2

p.P379insFs

c.1135_1136insA

1 paper

NM_001012614.2

p.P379fs

c.1135_1136fs

1 paper

NM_001012614.2

p.G381delFs

c.1141delC

1 paper

NM_001012614.2

p.H304L

c.911A>T

1 paper

NM_001012614.2

p.S395P

c.1183T>C

1 paper

NM_001012614.2

p.G399C

c.1195G>T

1 paper

NM_001012614.2

p.A404V

c.1211C>T