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

9 papers

NM_001329.4

p.D112A

c.335A>C

NM_022802.3

p.D652A

c.1955A>C

Surrounding Variants

1 paper

NM_001329.4

p.N110K

c.330C>G

1 paper

NM_001329.4

p.N110K

c.330C>A

1 paper

NM_001329.4

p.Y108Y

c.324T>C

1 paper

NM_001329.4

p.A116V

c.347C>T

1 paper

NM_001329.4

p.G117S

c.349G>A

8 papers

NM_022802.3

p.I644M

c.1932A>G

NM_001329.4

p.I104M

c.312A>G

1 paper

NM_001329.4

p.I104fs

c.310_311fs

7 papers

NM_001329.4

p.I104V

c.310A>G

1 paper

NM_001329.4

p.R103fs

c.307_308fs

8 papers

NM_022802.3

p.R643Q

c.1928G>A

NM_001329.4

p.R103Q

c.308G>A

5 papers

NM_001329.4

p.R103G

c.307C>G

1 paper

NM_001329.4

p.V102M

c.304G>A