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

1 paper

NM_001329.4

p.G393G

c.1179T>C

Surrounding Variants

4 papers

NM_001329.4

p.V392A

c.1175T>C

3 papers

NM_001329.4

p.V392L

c.1174G>T

3 papers

NM_001329.4

p.V392L

c.1174G>C

2 papers

NM_001329.4

p.A395G

c.1184C>G

7 papers

NM_001329.4

p.G390ins7

c.1169_1170ins21

1 paper

NM_001329.4

p.G390ins7

c.1168_1169ins21

1 paper

NM_001329.4

p.P388_P389insFs

c.1164_1165ins35

4 papers

NM_001329.4

p.A402S

c.1204G>T

1 paper

NM_001329.4

p.I406T

c.1217T>C

1 paper

NM_001329.4

p.I406I

c.1218C>A

1 paper

NM_001329.4

p.I407F

c.1219A>T

1 paper

NM_001329.4

p.P408P

c.1224T>G