Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.S285Splc

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
11 papers
NM_024298.5
p.S285Splc
c.855-2A>G
Surrounding Variants
1 paper
NM_024298.5
p.P286S
c.856C>T
1 paper
NM_024298.5
p.S291P
c.871T>C
1 paper
NM_024298.5
p.R300C
c.898C>T
1 paper
NM_024298.5
p.C304*
c.912C>A
1 paper
NM_024298.5
p.T307A
c.919A>G
1 paper
NM_024298.5
p.R312L
c.935G>T
1 paper
NM_024298.5
p.V313M
c.937G>A
1 paper
NM_024298.5
p.G316S
c.946G>A
1 paper
NM_024298.5
p.R318Q
c.953G>A
1 paper
NM_024298.5
p.T323M
c.968C>T
1 paper
NM_024298.5
p.Q325R
c.974A>G
1 paper
NM_024298.5
p.W326*
c.977G>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."