Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.P213S

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.P213S
c.637C>T
Surrounding Variants
1 paper
NM_024298.5
p.E219K
c.655G>A
3 papers
NM_024298.5
p.Y223*
c.669C>G
2 papers
NM_024298.5
p.Y223*
c.669C>A
3 papers
NM_024298.5
p.G202R
c.604G>C
1 paper
NM_024298.5
p.G202S
c.604G>A
1 paper
NM_024298.5
p.P199R
c.596C>G
7 papers
NM_024298.5
p.L227fs
c.679_680fs
3 papers
NM_024298.5
p.W196C
c.588G>T
2 papers
NM_024298.5
p.W196C
c.588G>C
2 papers
NM_024298.5
p.L231fs
c.691_692fs
9 papers
NM_024298.5
p.L227_R230delFs
c.680_690del11
1 paper
NM_024298.5
p.P190_L192delFs
c.568_574del7
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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."