Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.C256W

MBOAT7

106 papers

RefSeq Summary

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltrans...

Pfam Domains

MBOATaa 60–436UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7

HGNC Previous Symbol

LENG4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024298.5
p.C256W
c.768C>G
Surrounding Variants
1 paper
NM_024298.5
p.E253_I257delFs
c.757_769del13
1 paper
NM_024298.5
p.C254Y
c.761G>A
1 paper
NM_024298.5
p.A259V
c.776C>T
10 papers
NM_024298.5
p.E253K
c.757G>A
1 paper
NM_024298.5
p.A259del1
c.775_776delGGC
13 papers
NM_024298.5
p.E253_G260del0
c.758_778del21
2 papers
NM_024298.5
p.E253fs
c.757_758fs
1 paper
NM_024298.5
p.A251S
c.751G>T
1 paper
NM_024298.5
p.W249delFs
c.745delA
1 paper
NM_024298.5
p.A248S
c.742G>T
1 paper
NM_024298.5
p.P265L
c.794C>T
1 paper
NM_024298.5
p.V247L
c.739G>T
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