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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_001329.4

p.A2V

c.5C>T

2 papers

NM_001329.4

p.L3fs

c.7_8fs

3 papers

NM_001329.4

p.L3delFs

c.9delA

1 paper

NM_001329.4

p.V4fs

c.10_11fs

1 paper

NM_001329.4

p.V4fs

c.10_11fs

1 paper

NM_001329.4

p.K6R

c.17A>G

1 paper

NM_001329.4

p.K6K

c.18G>A

3 papers

NM_001329.4

p.H7R

c.20A>G

8 papers

NM_001329.4

p.K8*

c.22A>T

2 papers

NM_001329.4

p.K8R

c.23A>G

1 paper

NM_001329.4

p.K10R

c.29A>G

2 papers

NM_001329.4

p.R13*

c.37C>T