Varaico: Literature-Extracted Genetic Variants

Gene:SHARPIN
Variant:p.A8V

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.A8V
c.23C>T
Surrounding Variants
1 paper
NM_030974.4
p.A11_A12del1
c.33_35delGCC
2 papers
NM_030974.4
p.A12del1
c.34_35delGGC
1 paper
NM_030974.4
p.A2S
c.4G>T
6 papers
NM_030974.4
p.S17F
c.50C>T
1 paper
NM_030974.4
p.A18P
c.52G>C
1 paper
NM_030974.4
p.L22M
c.64T>A
1 paper
NM_030974.4
p.H25Q
c.75C>G
1 paper
NM_030974.4
p.A26T
c.76G>A
1 paper
NM_030974.4
p.E38V
c.113A>T
1 paper
NM_030974.4
p.L41delFs
c.121_122delAG
1 paper
NM_030974.4
p.Q45*
c.133C>T
1 paper
NM_030974.4
p.A48G
c.143C>G
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