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.H441H

c.1323C>T

Surrounding Variants

1 paper

NM_001329.4

p.H441N

c.1321C>A

7 papers

NM_001329.4

p.Q445*

c.1333C>T

1 paper

NM_001329.4

p.Q445K

c.1333C>A

3 papers

NM_001329.4

p.N438S

c.1313A>G

5 papers

NM_001329.4

p.D437N

c.1309G>A

2 papers

NM_001329.4

p.*446*

c.1338G>A

2 papers

NM_001329.4

p.K434delFs

c.1302delT

2 papers

NM_001329.4

p.K434fs

c.1300_1301fs

1 paper

NM_001329.4

p.K434fs

c.1300_1301fs

2 papers

NM_001329.4

p.T433S

c.1297A>T

1 paper

NM_001329.4

p.Q431Fs

c.1291_1292delinsAFs

3 papers

NM_001329.4

p.A426A

c.1278G>A