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

8 papers

NM_022802.3

p.I625F

c.1873A>T

NM_001329.4

p.I85F

c.253A>T

Surrounding Variants

7 papers

NM_001329.4

p.T86S

c.256A>T

7 papers

NM_001329.4

p.T86S

c.257C>G

1 paper

NM_001329.4

p.T88I

c.263C>T

1 paper

NM_001329.4

p.M80L

c.238A>T

1 paper

NM_001329.4

p.E90E

c.270G>A

1 paper

NM_001329.4

p.A79S

c.235G>T

1 paper

NM_001329.4

p.V77V

c.231G>A

1 paper

NM_001329.4

p.E93E

c.279G>A

6 papers

NM_022802.3

p.A616V

c.1847C>T

NM_001329.4

p.A76V

c.227C>T

9 papers

NM_022802.3

p.K634N

c.1902G>T

NM_001329.4

p.K94N

c.282G>T

9 papers

NM_022802.3

p.K634N

c.1902G>C

NM_001329.4

p.K94N

c.282G>C

2 papers

NM_001329.4

p.F95L

c.285C>A