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.D193A

c.578A>C

Surrounding Variants

1 paper

NM_001012614.2

p.P194S

c.580C>T

1 paper

NM_001012614.2

p.G186A

c.557G>C

1 paper

NM_001012614.2

p.G186D

c.557G>A

1 paper

NM_001012614.2

p.V200insFs

c.600dupG

1 paper

NM_001012614.2

p.L204_G205insA

c.610_614ins3

1 paper

NM_001012614.2

p.R173H

c.518G>A

1 paper

NM_001012614.2

p.D214insFs

c.640_641insT

1 paper

NM_001012614.2

p.G172V

c.515G>T

1 paper

NM_001012614.2

p.D220N

c.658G>A

1 paper

NM_001012614.2

p.D220delFs

c.658delC

1 paper

NM_001012614.2

p.C221Y

c.662G>A

1 paper

NM_001012614.2

p.N237D

c.709A>G