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

1 paper

NM_001012614.2

p.M9V

c.25A>G

Surrounding Variants

1 paper

NM_001012614.2

p.N10S

c.29A>G

1 paper

NM_001012614.2

p.G3D

c.8G>A

1 paper

NM_001012614.2

p.G3S

c.7G>A

1 paper

NM_001012614.2

p.P15S

c.43C>T

1 paper

NM_001012614.2

p.R16W

c.46C>T

1 paper

NM_001328.3

p.G35V

c.104G>T

1 paper

NM_001328.3

p.R36P

c.107G>C

1 paper

NM_001012614.2

p.C27Y

c.80G>A

1 paper

NM_001012614.2

p.A41D

c.122C>A

1 paper

NM_001012614.2

p.F42delFs

c.124_125delAA

1 paper

NM_001328.3

p.F53del1

c.157_158delGAA

1 paper

NM_001012614.2

p.E53_K54del1

c.158_160delTCT