Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.H399P

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.H399P
c.1196A>C
Surrounding Variants
1 paper
NM_024298.5
p.G385_G391delFs
c.1154_1172del19
1 paper
NM_024298.5
p.G390E
c.1169G>A
1 paper
NM_024298.5
p.W400_M412del13
c.1198_1235del39
1 paper
NM_024298.5
p.G385fs
c.1153_1154fs
1 paper
NM_024298.5
p.R384Q
c.1151G>A
1 paper
NM_024298.5
p.L417P
c.1250T>C
7 papers
NM_024298.5
p.L379delFs
c.1135delG
5 papers
NM_024298.5
p.L379fs
c.1135_1136fs
9 papers
NM_024298.5
p.E376K
c.1126G>A
1 paper
NM_024298.5
p.R424W
c.1270C>T
1 paper
NM_024298.5
p.C372*
c.1116C>A
6 papers
NM_024298.5
p.W426*
c.1277G>A
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