Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.L205delFs

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.L205delFs
c.613_614delAG
Surrounding Variants
1 paper
NM_030974.4
p.R202H
c.605G>A
1 paper
NM_030974.4
p.A212V
c.635C>T
2 papers
NM_030974.4
p.V197I
c.589G>A
1 paper
NM_030974.4
p.A195E
c.584C>A
1 paper
NM_030974.4
p.A192D
c.575C>A
12 papers
NM_030974.4
p.G186R
c.556G>C
12 papers
NM_030974.4
p.G186R
c.556G>A
1 paper
NM_030974.4
p.A182P
c.544G>C
2 papers
NM_030974.4
p.R181Q
c.542G>A
1 paper
NM_030974.4
p.R220Splc
c.659+35G>A
1 paper
NM_030974.4
p.E174Q
c.520G>C
1 paper
NM_030974.4
p.A231V
c.692C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."