Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.F359V

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
2 papers
NM_030974.4
p.F359V
c.1075T>G
Surrounding Variants
3 papers
NM_030974.4
p.T358A
c.1072A>G
1 paper
NM_030974.4
p.R365C
c.1093C>T
3 papers
NM_030974.4
p.R365H
c.1094G>A
1 paper
NM_030974.4
p.S372N
c.1115G>A
1 paper
NM_030974.4
p.Q374delFs
c.1120delG
1 paper
NM_030974.4
p.R375delFs
c.1125delC
2 papers
NM_030974.4
p.W379*
c.1136G>A
2 papers
NM_030974.4
p.W379*
c.1137G>A
2 papers
NM_030974.4
p.P381R
c.1142C>G
1 paper
NM_030974.4
p.*388Q
c.1162T>C
1 paper
NM_030974.4
p.S346R
c.1038T>G
1 paper
NM_030974.4
p.S346R
c.1038T>A
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