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

2 papers

NM_001012614.2

p.L70L

c.210C>G

Surrounding Variants

1 paper

NM_001012614.2

p.I68_T69insFs

c.204_205insA

1 paper

NM_001012614.2

p.T67I

c.200C>T

1 paper

NM_001012614.2

p.L75L

c.225G>A

1 paper

NM_001012614.2

p.L63L

c.189G>A

2 papers

NM_001012614.2

p.G61G

c.183G>A

1 paper

NM_001012614.2

p.L81L

c.243C>G

1 paper

NM_001012614.2

p.V55D

c.164T>A

1 paper

NM_001012614.2

p.R86R

c.258G>A

3 papers

NM_001328.3

p.S124F

c.371C>T

1 paper

NM_001012614.2

p.H124_I125del2

c.370_374del6

1 paper

NM_001012614.2

p.R140W

c.418C>T

1 paper

NM_001328.3

p.S158_E160del3

c.472_479del9