Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.V240A

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.V240A
c.719T>C
Surrounding Variants
1 paper
NM_030974.4
p.P246S
c.736C>T
1 paper
NM_030974.4
p.A231V
c.692C>T
1 paper
NM_030974.4
p.Q256H
c.768G>T
1 paper
NM_030974.4
p.Q256H
c.768G>C
1 paper
NM_030974.4
p.R220Splc
c.659+35G>A
2 papers
NM_030974.4
p.E260A
c.779A>C
2 papers
NM_030974.4
p.V267A
c.800T>C
1 paper
NM_030974.4
p.A212V
c.635C>T
7 papers
NM_030974.4
p.R274W
c.820C>T
1 paper
NM_030974.4
p.L205delFs
c.613_614delAG
1 paper
NM_030974.4
p.R202H
c.605G>A
1 paper
NM_030974.4
p.S282T
c.845G>C
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