Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.V10M

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.V10M
c.28G>A
Surrounding Variants
1 paper
NM_024298.5
p.L13del1
c.37_38delAAG
1 paper
NM_024298.5
p.I14T
c.41T>C
1 paper
NM_024298.5
p.P17R
c.50C>G
1 paper
NM_024298.5
p.S2T
c.4T>A
1 paper
NM_024298.5
p.M1I
c.3G>A
1 paper
NM_024298.5
p.M1insFs
c.1dupA
1 paper
NM_024298.5
p.M1T
c.2T>C
1 paper
NM_024298.5
p.G19delFs
c.56delC
1 paper
NM_024298.5
p.F20fs
c.58_59fs
1 paper
NM_024298.5
p.F20C
c.59T>G
1 paper
NM_024298.5
p.G19_G26delFs
c.57_76del20
1 paper
NM_024298.5
p.G26Splc
c.77-2A>C
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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."