Varaico: Literature-Extracted Genetic Variants

Gene:DIP2C
Variant:p.A533Splc

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.A533Splc
c.1597+198C>T
Surrounding Variants
1 paper
NM_014974.3
p.T519S
c.1555A>T
1 paper
NM_014974.3
p.A516V
c.1547C>T
1 paper
NM_014974.3
p.D489V
c.1466A>T
1 paper
NM_014974.3
p.H486Q
c.1458C>G
1 paper
NM_014974.3
p.H486Q
c.1458C>A
1 paper
NM_014974.3
p.R481*
c.1441C>T
1 paper
NM_014974.3
p.K478R
c.1433A>G
2 papers
NM_014974.3
p.P464L
c.1391C>T
1 paper
NM_014974.3
p.G462V
c.1385G>T
1 paper
NM_014974.3
p.G462Splc
c.1385-2A>G
1 paper
NM_014974.3
p.G462Splc
c.1384+2T>G
1 paper
NM_014974.3
p.F460Y
c.1379T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."