Varaico: Literature-Extracted Genetic Variants

Gene:MEGF6
Variant:p.P1377S

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.P1377S
c.4129C>T
Surrounding Variants
1 paper
NM_001409.4
p.C1374C
c.4122C>T
1 paper
NM_001409.4
p.G1366S
c.4096G>A
1 paper
NM_001409.4
p.P1358_A1359insCC
c.4072_4076ins6
1 paper
NM_001409.4
p.N1353_S1354del2
c.4057_4061del6
1 paper
NM_001409.4
p.N1353_S1354del1
c.4058_4060delTGT
2 papers
NM_001409.4
p.S1349P
c.4045T>C
1 paper
NM_001409.4
p.G1341R
c.4021G>C
1 paper
NM_001409.4
p.G1341R
c.4021G>A
1 paper
NM_001409.4
p.P1336L
c.4007C>T
1 paper
NM_001409.4
p.C1335W
c.4005T>G
1 paper
NM_001409.4
p.C1335delFs
c.4003delA
1 paper
NM_001409.4
p.P1377S
c.4129C>T
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