Varaico: Literature-Extracted Genetic Variants

Gene:DIP2C
Variant:p.R1253*

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.R1253*
c.3757C>T
Surrounding Variants
1 paper
NM_014974.3
p.S1258F
c.3773C>T
1 paper
NM_014974.3
p.R1261K
c.3782G>A
3 papers
NM_014974.3
p.V1264M
c.3790G>A
1 paper
NM_014974.3
p.S1278S
c.3834G>A
1 paper
NM_014974.3
p.F1297F
c.3891C>T
1 paper
NM_014974.3
p.A1304V
c.3911C>T
1 paper
NM_014974.3
p.L1250L
c.3750C>G
1 paper
NM_014974.3
p.C1239C
c.3717C>T
1 paper
NM_014974.3
p.V1235M
c.3703G>A
1 paper
NM_014974.3
p.Y1233*
c.3699C>G
1 paper
NM_014974.3
p.Y1233*
c.3699C>A
1 paper
NM_014974.3
p.P1206L
c.3617C>T
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