Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.D291G

SHARPIN

108 papers

Pfam Domains

Sharpin_PHaa 15–127UCSCSharpin PH domain
LTMaa 174–215UCSCLUBAC thetering domain

Gene Aliases

HGNC Name

SHANK associated RH domain interactor

HGNC Alias Symbols

DKFZP434N1923; SIPL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_030974.4
p.D291G
c.872A>G
Surrounding Variants
1 paper
NM_030974.4
p.Q290H
c.870G>T
1 paper
NM_030974.4
p.G292R
c.874G>C
1 paper
NM_030974.4
p.Q290H
c.870G>C
1 paper
NM_030974.4
p.G292R
c.874G>A
4 papers
NM_030974.4
p.P294S
c.880C>T
1 paper
NM_030974.4
p.Y298delFs
c.893_894delGT
1 paper
NM_030974.4
p.S282T
c.845G>C
1 paper
NM_030974.4
p.E305K
c.913G>A
1 paper
NM_030974.4
p.A306A
c.918C>G
7 papers
NM_030974.4
p.R274W
c.820C>T
2 papers
NM_030974.4
p.V267A
c.800T>C
2 papers
NM_030974.4
p.E260A
c.779A>C
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