Varaico: Literature-Extracted Genetic Variants

Gene:DIP2C
Variant:p.A300fs

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.A300fs
c.898_899fs
Surrounding Variants
1 paper
NM_014974.3
p.A300insFs
c.898dupG
1 paper
NM_014974.3
p.P297L
c.890C>T
1 paper
NM_014974.3
p.P290T
c.868C>A
1 paper
NM_014974.3
p.S319L
c.956C>T
1 paper
NM_014974.3
p.L324L
c.970C>T
1 paper
NM_014974.3
p.N343S
c.1028A>G
1 paper
NM_014974.3
p.Y352fs
c.1054_1055fs
1 paper
NM_014974.3
p.T351_Y352delFs
c.1053_1056del4
3 papers
NM_014974.3
p.G353Splc
c.1057+2T>G
1 paper
NM_014974.3
p.R274*
c.820C>T
2 papers
NM_014974.3
p.R253W
c.757C>T
1 paper
NM_014974.3
p.G247Splc
c.740-1056G>A
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