Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.A313V

MEGF6

157 papers

Pfam Domains

FXa_inhibitionaa 60–95UCSCCoagulation Factor Xa inhibitory site
cEGFaa 119–139UCSCComplement Clr-like EGF-like
EGF_CAaa 180–219UCSCCalcium-binding EGF domain
FXa_inhibitionaa 230–265UCSCCoagulation Factor Xa inhibitory site
EGF_CAaa 267–305UCSCCalcium-binding EGF domain
EGF_CAaa 307–346UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

multiple EGF like domains 6

HGNC Previous Symbol

EGFL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001409.4
p.A313V
c.938C>T
Surrounding Variants
1 paper
NM_001409.4
p.A319S
c.955G>T
4 papers
NM_001409.4
p.R322W
c.964C>T
1 paper
NM_001409.4
p.R326Splc
c.976+1G>A
1 paper
NM_001409.4
p.A291T
c.871G>A
1 paper
NM_001409.4
p.E288K
c.862G>A
1 paper
NM_001409.4
p.G341S
c.1021G>A
1 paper
NM_001409.4
p.T349P
c.1045A>C
1 paper
NM_001409.4
p.T356T
c.1068A>C
1 paper
NM_001409.4
p.R359H
c.1076G>A
1 paper
NM_001409.4
p.V373V
c.1119C>T
1 paper
NM_001409.4
p.C382R
c.1144T>C
1 paper
NM_001409.4
p.P390A
c.1168C>G
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