Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.L115Q

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.L115Q
c.344T>A
Surrounding Variants
1 paper
NM_024298.5
p.V113V
c.339G>A
1 paper
NM_024298.5
p.V119I
c.355G>A
1 paper
NM_024298.5
p.D121H
c.361G>C
1 paper
NM_024298.5
p.R127K
c.380G>A
1 paper
NM_024298.5
p.F134fs
c.400_401fs
1 paper
NM_024298.5
p.F134_P138delFs
c.400_412del13
8 papers
NM_024298.5
p.L142fs
c.424_425fs
NM_001146056.3
p.L69fs
c.205_206fs
11 papers
NM_024298.5
p.G141delFs
c.423delC
NM_001146056.3
p.G68delFs
c.204delC
1 paper
NM_024298.5
p.P144P
c.432C>T
1 paper
NM_024298.5
p.L153fs
c.457_458fs
1 paper
NM_024298.5
p.L153fs
c.457_458fs
1 paper
NM_024298.5
p.S154G
c.460A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."