Varaico: Literature-Extracted Genetic Variants

Gene:SNED1
Variant:p.E747K

SNED1

89 papers

Pfam Domains

NIDOaa 68–257UCSCNidogen-like
EGFaa 272–307UCSCEGF-like domain
EGFaa 315–345UCSCEGF-like domain
hEGFaa 358–379UCSCHuman growth factor-like EGF
EGFaa 391–421UCSCEGF-like domain
EGFaa 433–463UCSCEGF-like domain

Gene Aliases

HGNC Name

sushi, nidogen and EGF like domains 1

HGNC Alias Symbols

FLJ00133; SST3; Snep

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080437.3
p.E747K
c.2239G>A
Surrounding Variants
1 paper
NM_001080437.3
p.Q750K
c.2248C>A
1 paper
NM_001080437.3
p.R735H
c.2204G>A
1 paper
NM_001080437.3
p.S729R
c.2187C>A
1 paper
NM_001080437.3
p.S729R
c.2187C>G
1 paper
NM_001080437.3
p.S729R
c.2185A>C
1 paper
NM_001080437.3
p.R726C
c.2176C>T
1 paper
NM_001080437.3
p.A718A
c.2154G>A
1 paper
NM_001080437.3
p.R715L
c.2144G>T
1 paper
NM_001080437.3
p.G699fs
c.2095_2096fs
1 paper
NM_001080437.3
p.P646S
c.1936C>T
2 papers
NM_001080437.3
p.T594M
c.1781C>T
1 paper
NM_001080437.3
p.R590W
c.1768C>T
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