Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.R325S

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
1 paper
NM_030974.4
p.R325S
c.973C>A
Surrounding Variants
1 paper
NM_030974.4
p.L326delFs
c.977delA
1 paper
NM_030974.4
p.M319insFs
c.955_956insG
1 paper
NM_030974.4
p.K318*
c.952A>T
1 paper
NM_030974.4
p.Q317R
c.950A>G
1 paper
NM_030974.4
p.Q317*
c.949C>T
2 papers
NM_030974.4
p.L333fs
c.997_998fs
2 papers
NM_030974.4
p.Q314*
c.940C>T
1 paper
NM_030974.4
p.P311R
c.932C>G
1 paper
NM_030974.4
p.S346R
c.1036A>C
1 paper
NM_030974.4
p.S346R
c.1038T>G
1 paper
NM_030974.4
p.S346R
c.1038T>A
1 paper
NM_030974.4
p.A306A
c.918C>G
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