Varaico: Literature-Extracted Genetic Variants

Gene:SHISA2
Variant:p.P113L

SHISA2

27 papers

Pfam Domains

Shisa_Naa 35–90UCSCShisa, N-terminal domain

Gene Aliases

HGNC Name

shisa family member 2

HGNC Previous Symbols

C13orf13; TMEM46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001007538.2
p.P113L
c.338C>T
Surrounding Variants
1 paper
NM_001007538.2
p.P113T
c.337C>A
1 paper
NM_001007538.2
p.P117S
c.349C>T
1 paper
NM_001007538.2
p.V124M
c.370G>A
1 paper
NM_001007538.2
p.A127T
c.379G>A
1 paper
NM_001007538.2
p.R144W
c.430C>T
2 papers
NM_001007538.2
p.R144Q
c.431G>A
1 paper
NM_001007538.2
p.Q147*
c.439C>T
1 paper
NM_001007538.2
p.S152N
c.455G>A
1 paper
NM_001007538.2
p.P165S
c.493C>T
1 paper
NM_001007538.2
p.S169C
c.505A>T
1 paper
NM_001007538.2
p.R179C
c.535C>T
1 paper
NM_001007538.2
p.G194G
c.582G>T
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