Varaico: Literature-Extracted Genetic Variants

CTBP2

168 papers

RefSeq Summary

This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as syn...

Pfam Domains

2-Hacid_dhaa 36–358UCSCD-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain

2-Hacid_dh_Caa 139–323UCSCD-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain

Gene Aliases

HGNC Name

C-terminal binding protein 2

HGNC Alias Symbol

ribeye

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001329.4

p.G410D

c.1229G>A

Surrounding Variants

1 paper

NM_001329.4

p.P408P

c.1224T>G

2 papers

NM_001329.4

p.P412L

c.1235C>T

3 papers

NM_001329.4

p.P412P

c.1236A>G

1 paper

NM_001329.4

p.I407F

c.1219A>T

1 paper

NM_001329.4

p.I406I

c.1218C>A

1 paper

NM_001329.4

p.I406T

c.1217T>C

2 papers

NM_001329.4

p.H415H

c.1245C>T

4 papers

NM_001329.4

p.N416K

c.1248C>G

4 papers

NM_001329.4

p.N416K

c.1248C>A

4 papers

NM_001329.4

p.A402S

c.1204G>T

2 papers

NM_001329.4

p.P418P

c.1254G>C

1 paper

NM_001329.4

p.A421V

c.1262C>T