Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN

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
1–12 of 87 variants
12 papers
NM_030974.4
p.G186R
c.556G>C
12 papers
NM_030974.4
p.G186R
c.556G>A
7 papers
NM_030974.4
p.R274W
c.820C>T
6 papers
NM_030974.4
p.S17F
c.50C>T
4 papers
NM_030974.4
p.P294S
c.880C>T
3 papers
NM_030974.4
p.V240A
c.719T>C
3 papers
NM_030974.4
p.D291G
c.872A>G
3 papers
NM_030974.4
p.T358A
c.1072A>G
3 papers
NM_030974.4
p.R365H
c.1094G>A
2 papers
NM_030974.4
p.A12del1
c.34_35delGGC
2 papers
NM_030974.4
p.V68D
c.203T>A
2 papers
NM_030974.4
p.R181Q
c.542G>A
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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."