Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.C451_S452delFs

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.C451_S452delFs
c.1353_1354delTG
Surrounding Variants
1 paper
NM_001409.4
p.R420C
c.1258C>T
1 paper
NM_001409.4
p.P453insFs
c.1358_1359insCC
3 papers
NM_001409.4
p.P482L
c.1445C>T
1 paper
NM_001409.4
p.Q483K
c.1447C>A
1 paper
NM_001409.4
p.D489N
c.1465G>A
1 paper
NM_001409.4
p.D489D
c.1467C>T
1 paper
NM_001409.4
p.V490A
c.1469T>C
1 paper
NM_001409.4
p.E495K
c.1483G>A
1 paper
NM_001409.4
p.T506A
c.1516A>G
1 paper
NM_001409.4
p.G409C
c.1225G>T
1 paper
NM_001409.4
p.P390A
c.1168C>G
1 paper
NM_001409.4
p.C382R
c.1144T>C
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