Varaico: Literature-Extracted Genetic Variants

Gene:GID4
Variant:p.R44P

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.R44P
c.131G>C
Surrounding Variants
1 paper
NM_024052.5
p.S43T
c.127T>A
1 paper
NM_024052.5
p.S43P
c.127T>C
1 paper
NM_024052.5
p.H46P
c.137A>C
1 paper
NM_024052.5
p.A48_A50del0
c.142_150del9
1 paper
NM_024052.5
p.R49R
c.147T>G
1 paper
NM_024052.5
p.R51P
c.152G>C
1 paper
NM_024052.5
p.G53V
c.158G>T
3 papers
NM_024052.5
p.A68del1
c.202_203delGCG
1 paper
NM_024052.5
p.P23S
c.67C>T
1 paper
NM_024052.5
p.V22D
c.65T>A
1 paper
NM_024052.5
p.S20L
c.59C>T
1 paper
NM_024052.5
p.V69A
c.206T>C
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