Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.R424W

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.R424W
c.1270C>T
Surrounding Variants
6 papers
NM_024298.5
p.W426*
c.1277G>A
9 papers
NM_024298.5
p.W426*
c.1278G>A
1 paper
NM_024298.5
p.L417P
c.1250T>C
1 paper
NM_024298.5
p.Y430*
c.1290C>G
1 paper
NM_024298.5
p.Y430*
c.1290C>A
1 paper
NM_024298.5
p.H434R
c.1301A>G
1 paper
NM_024298.5
p.W400_M412del13
c.1198_1235del39
1 paper
NM_024298.5
p.A446V
c.1337C>T
1 paper
NM_024298.5
p.H399P
c.1196A>C
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.A458_S459del2
c.1372_1376del6
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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."