Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.L76V

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.L76V
c.226C>G
Surrounding Variants
1 paper
NM_024298.5
p.Y82C
c.245A>G
5 papers
NM_024298.5
p.L84fs
c.250_251fs
5 papers
NM_024298.5
p.L84delFs
c.251delA
9 papers
NM_024298.5
p.R87*
c.259C>T
1 paper
NM_024298.5
p.R87G
c.259C>G
1 paper
NM_024298.5
p.R87Q
c.260G>A
1 paper
NM_024298.5
p.T109T
c.327G>A
1 paper
NM_024298.5
p.Q67*
c.199C>T
1 paper
NM_024298.5
p.S53_G59del0
c.159_176del18
1 paper
NM_024298.5
p.V55A
c.164T>C
9 papers
NM_024298.5
p.T42_H49delFs
c.126_145del20
6 papers
NM_024298.5
p.L43fs
c.127_128fs
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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."