Varaico: Literature-Extracted Genetic Variants

Gene:UTP18
Variant:p.D352N

UTP18

20 papers

Pfam Domains

WD40aa 373–410UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

UTP18 small subunit processome component

HGNC Previous Symbol

WDR50

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016001.3
p.D352N
c.1054G>A
Surrounding Variants
1 paper
NM_016001.3
p.V336insFs
c.1007_1008insA
1 paper
NM_016001.3
p.T315fs
c.943_944fs
1 paper
NM_016001.3
p.T315delFs
c.944delC
1 paper
NM_016001.3
p.C302C
c.906T>C
1 paper
NM_016001.3
p.S255S
c.765A>C
1 paper
NM_016001.3
p.S255*
c.764C>A
1 paper
NM_016001.3
p.S255*
c.764C>G
1 paper
NM_016001.3
p.I254I
c.762C>T
2 papers
NM_016001.3
p.V406I
c.1216G>A
1 paper
NM_016001.3
p.C416F
c.1247G>T
1 paper
NM_016001.3
p.T229T
c.687T>G
1 paper
NM_016001.3
p.L479V
c.1435C>G
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