Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.G274_P276delFs

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.G274_P276delFs
c.820_826del7
Surrounding Variants
2 papers
NM_024298.5
p.T277P
c.829A>C
4 papers
NM_024298.5
p.G275S
c.823G>A
NM_001146056.3
p.G202S
c.604G>A
7 papers
NM_024298.5
p.G274fs
c.820_821fs
1 paper
NM_024298.5
p.A272V
c.815C>T
4 papers
NM_024298.5
p.R271fs
c.811_812fs
10 papers
NM_024298.5
p.S285Splc
c.854+1G>C
1 paper
NM_024298.5
p.P265L
c.794C>T
1 paper
NM_024298.5
p.S285Splc
c.854+7C>T
1 paper
NM_024298.5
p.A259del1
c.775_776delGGC
13 papers
NM_024298.5
p.E253_G260del0
c.758_778del21
1 paper
NM_024298.5
p.A259V
c.776C>T
1 paper
NM_024298.5
p.E253_I257delFs
c.757_769del13
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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."