Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.H1413Y

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.H1413Y
c.4237C>T
Surrounding Variants
1 paper
NM_001409.4
p.R1405*
c.4213C>T
2 papers
NM_001409.4
p.W1392R
c.4174T>C
2 papers
NM_001409.4
p.W1392R
c.4174T>A
1 paper
NM_001409.4
p.C1391F
c.4172G>T
1 paper
NM_001409.4
p.G1384R
c.4150G>C
1 paper
NM_001409.4
p.G1384R
c.4150G>A
1 paper
NM_001409.4
p.P1379H
c.4136C>A
1 paper
NM_001409.4
p.P1377S
c.4129C>T
1 paper
NM_001409.4
p.G1420Splc
c.4259-2A>G
1 paper
NM_001409.4
p.C1434S
c.4300T>A
1 paper
NM_001409.4
p.C1434S
c.4301G>C
2 papers
NM_001409.4
p.G1438R
c.4312G>C
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