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

1–12 of 293 variants

8 papers

NM_001329.4

p.K8*

c.22A>T

8 papers

NM_001329.4

p.K94N

c.282G>T

8 papers

NM_001329.4

p.K94N

c.282G>C

8 papers

NM_001329.4

p.D112A

c.335A>C

7 papers

NM_001329.4

p.I85F

c.253A>T

7 papers

NM_001329.4

p.T86S

c.256A>T

7 papers

NM_001329.4

p.T86S

c.257C>G

7 papers

NM_001329.4

p.R103Q

c.308G>A

7 papers

NM_001329.4

p.I104V

c.310A>G

7 papers

NM_001329.4

p.I104M

c.312A>G

7 papers

NM_001329.4

p.G390ins7

c.1169_1170ins21

7 papers

NM_001329.4

p.Q445*

c.1333C>T