Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.C372*

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.C372*
c.1116C>A
Surrounding Variants
1 paper
NM_024298.5
p.P370S
c.1108C>T
9 papers
NM_024298.5
p.E376K
c.1126G>A
5 papers
NM_024298.5
p.L379fs
c.1135_1136fs
7 papers
NM_024298.5
p.L379delFs
c.1135delG
3 papers
NM_024298.5
p.S365R
c.1095C>G
2 papers
NM_024298.5
p.S365R
c.1095C>A
2 papers
NM_024298.5
p.S365R
c.1093A>C
1 paper
NM_024298.5
p.Y363C
c.1088A>G
1 paper
NM_024298.5
p.R384Q
c.1151G>A
1 paper
NM_024298.5
p.G385fs
c.1153_1154fs
1 paper
NM_024298.5
p.G357R
c.1069G>C
6 papers
NM_024298.5
p.G357S
c.1069G>A
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