Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.C200Y

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
1 paper
NM_001409.4
p.C200Y
c.599G>A
Surrounding Variants
1 paper
NM_001409.4
p.G190R
c.568G>C
1 paper
NM_001409.4
p.C185F
c.554G>T
3 papers
NM_001409.4
p.P180L
c.539C>T
1 paper
NM_001409.4
p.C176F
c.527G>T
1 paper
NM_001409.4
p.N210S
c.629A>G
1 paper
NM_001409.4
p.C213R
c.637T>C
1 paper
NM_001409.4
p.C213S
c.637T>A
1 paper
NM_001409.4
p.C213S
c.638G>C
1 paper
NM_001409.4
p.R224Q
c.671G>A
1 paper
NM_001409.4
p.C229fs
c.685_686fs
1 paper
NM_001409.4
p.C229Y
c.686G>A
1 paper
NM_001409.4
p.R230Q
c.689G>A
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