Varaico: Literature-Extracted Genetic Variants

DIP2C

144 papers

RefSeq Summary

This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is ...

Pfam Domains

DMAP_bindingaa 7–120UCSCDMAP1-binding Domain

AMP-bindingaa 324–745UCSCAMP-binding enzyme

AMP-bindingaa 976–1386UCSCAMP-binding enzyme

Gene Aliases

HGNC Name

disco interacting protein 2 homolog C

HGNC Previous Symbol

KIAA0934

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014974.3

p.P234L

c.701C>T

Surrounding Variants

1 paper

NM_014974.3

p.G229R

c.685G>C

1 paper

NM_014974.3

p.G229R

c.685G>A

1 paper

NM_014974.3

p.T228M

c.683C>T

1 paper

NM_014974.3

p.E243D

c.729G>T

1 paper

NM_014974.3

p.E243D

c.729G>C

1 paper

NM_014974.3

p.V221M

c.661G>A

2 papers

NM_014974.3

p.Y213insFs

c.637_638insGT

1 paper

NM_014974.3

p.Y213fs

c.637_638fs

1 paper

NM_014974.3

p.H204delFs

c.611_612delAT

1 paper

NM_014974.3

p.G247Splc

c.739+62C>T

1 paper

NM_014974.3

p.G247Splc

c.740-1056G>A

2 papers

NM_014974.3

p.R253W

c.757C>T