Varaico: Literature-Extracted Genetic Variants

Gene:GID4
Variant:p.S253T

GID4

61 papers

RefSeq Summary

The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a su...

Pfam Domains

Vac_ImportDegaa 121–289UCSCVacuolar import and degradation protein

Gene Aliases

HGNC Name

GID complex subunit 4 homolog

HGNC Previous Symbol

C17orf39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024052.5
p.S253T
c.757T>A
Surrounding Variants
1 paper
NM_024052.5
p.S253A
c.757T>G
1 paper
NM_024052.5
p.A252V
c.755C>T
1 paper
NM_024052.5
p.G251C
c.751G>T
1 paper
NM_024052.5
p.D248A
c.743A>C
3 papers
NM_024052.5
p.E237A
c.710A>C
1 paper
NM_024052.5
p.E237K
c.709G>A
1 paper
NM_024052.5
p.E270D
c.810G>C
1 paper
NM_024052.5
p.E270D
c.810G>T
1 paper
NM_024052.5
p.H275R
c.824A>G
1 paper
NM_024052.5
p.R276G
c.826A>G
1 paper
NM_024052.5
p.R276W
c.826A>T
1 paper
NM_024052.5
p.R276M
c.827G>T
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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."