Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.P106S

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.P106S
c.316C>T
Surrounding Variants
1 paper
NM_030974.4
p.L101M
c.301C>A
1 paper
NM_030974.4
p.A113T
c.337G>A
1 paper
NM_030974.4
p.V114D
c.341T>A
1 paper
NM_030974.4
p.P93L
c.278C>T
1 paper
NM_030974.4
p.Q90*
c.268C>T
1 paper
NM_030974.4
p.E88D
c.264G>T
1 paper
NM_030974.4
p.E88D
c.264G>C
1 paper
NM_030974.4
p.Q86Q
c.258G>A
1 paper
NM_030974.4
p.P84delFs
c.252delG
1 paper
NM_030974.4
p.R82P
c.245G>C
1 paper
NM_030974.4
p.R82delFs
c.244delG
1 paper
NM_030974.4
p.L74insFs
c.220dupC
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