Varaico: Literature-Extracted Genetic Variants

Gene:SNED1
Variant:p.E1238Q

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
5 papers
NM_001080437.3
p.E1238Q
c.3712G>C
Surrounding Variants
1 paper
NM_001080437.3
p.T1241P
c.3721A>C
2 papers
NM_001080437.3
p.Q1242P
c.3725A>C
1 paper
NM_001080437.3
p.Q1242H
c.3726G>C
1 paper
NM_001080437.3
p.Q1242H
c.3726G>T
3 papers
NM_001080437.3
p.L1228P
c.3683T>C
1 paper
NM_001080437.3
p.R1205H
c.3614G>A
1 paper
NM_001080437.3
p.S1247L
c.3740C>T
1 paper
NM_001080437.3
p.A1258T
c.3772G>A
1 paper
NM_001080437.3
p.Q1273Splc
c.3817+410G>A
1 paper
NM_001080437.3
p.A1190P
c.3568G>C
1 paper
NM_001080437.3
p.P1189H
c.3566C>A
1 paper
NM_001080437.3
p.E1281K
c.3841G>A
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