Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT7
Variant:p.W196C

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
3 papers
NM_024298.5
p.W196C
c.588G>T
Surrounding Variants
2 papers
NM_024298.5
p.W196C
c.588G>C
1 paper
NM_024298.5
p.P199R
c.596C>G
1 paper
NM_024298.5
p.P190_L192delFs
c.568_574del7
3 papers
NM_024298.5
p.G202R
c.604G>C
1 paper
NM_024298.5
p.G202S
c.604G>A
2 papers
NM_024298.5
p.G183R
c.547G>C
1 paper
NM_024298.5
p.G183R
c.547G>A
1 paper
NM_024298.5
p.F181insFs
c.542_543insT
1 paper
NM_024298.5
p.P213S
c.637C>T
1 paper
NM_024298.5
p.Q179P
c.536A>C
3 papers
NM_024298.5
p.D175A
c.524A>C
1 paper
NM_024298.5
p.E219K
c.655G>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."