Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.R982W

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
3 papers
NM_001409.4
p.R982W
c.2944C>T
Surrounding Variants
1 paper
NM_001409.4
p.A964T
c.2890G>A
1 paper
NM_001409.4
p.F952insFs
c.2856dupT
1 paper
NM_001409.4
p.R916R
c.2748G>C
9 papers
NM_001409.4
p.R916L
c.2747G>T
1 paper
NM_001409.4
p.Q903insFs
c.2708_2709insC
1 paper
NM_001409.4
p.G1016W
c.3046G>T
1 paper
NM_001409.4
p.G1016V
c.3047G>T
1 paper
NM_001409.4
p.G1023C
c.3067G>T
1 paper
NM_001409.4
p.P1022delFs
c.3066delA
1 paper
NM_001409.4
p.G1023fs
c.3067_3068fs
1 paper
NM_001409.4
p.A1032Splc
c.3094+25G>A
1 paper
NM_001409.4
p.A1032T
c.3094G>A
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