Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.V237V

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.V237V
c.711C>T
Surrounding Variants
2 papers
NM_024298.5
p.L231fs
c.691_692fs
9 papers
NM_024298.5
p.L227_R230delFs
c.680_690del11
3 papers
NM_024298.5
p.Y246H
c.736T>C
1 paper
NM_024298.5
p.V247L
c.739G>T
1 paper
NM_024298.5
p.V247L
c.739G>C
1 paper
NM_024298.5
p.A248S
c.742G>T
7 papers
NM_024298.5
p.L227fs
c.679_680fs
1 paper
NM_024298.5
p.W249delFs
c.745delA
1 paper
NM_024298.5
p.A251S
c.751G>T
3 papers
NM_024298.5
p.Y223*
c.669C>G
2 papers
NM_024298.5
p.Y223*
c.669C>A
10 papers
NM_024298.5
p.E253K
c.757G>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."