Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7

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
1–12 of 156 variants
13 papers
NM_024298.5
p.E253_G260del0
c.758_778del21
11 papers
NM_024298.5
p.G274_P276delFs
c.820_826del7
11 papers
NM_024298.5
p.S285Splc
c.855-2A>G
10 papers
NM_024298.5
p.G141delFs
c.423delC
10 papers
NM_024298.5
p.E253K
c.757G>A
10 papers
NM_024298.5
p.S285Splc
c.854+1G>C
9 papers
NM_024298.5
p.T42_H49delFs
c.126_145del20
9 papers
NM_024298.5
p.R87*
c.259C>T
9 papers
NM_024298.5
p.L227_R230delFs
c.680_690del11
9 papers
NM_024298.5
p.E376K
c.1126G>A
9 papers
NM_024298.5
p.W426*
c.1278G>A
8 papers
NM_024298.5
p.Y354*
c.1062C>A
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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."