Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT1
Variant:p.R364Q

MBOAT1

31 papers

RefSeq Summary

This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups...

Pfam Domains

MBOATaa 123–439UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

membrane bound glycerophospholipid O-acyltransferase 1

HGNC Previous Symbol

OACT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080480.3
p.R364Q
c.1091G>A
Surrounding Variants
1 paper
NM_001080480.3
p.V365L
c.1093G>C
1 paper
NM_001080480.3
p.P366P
c.1098A>G
1 paper
NM_001080480.3
p.T373I
c.1118C>T
1 paper
NM_001080480.3
p.L376M
c.1126C>A
1 paper
NM_001080480.3
p.F412L
c.1234T>C
1 paper
NM_001080480.3
p.F412L
c.1236C>G
1 paper
NM_001080480.3
p.F412L
c.1236C>A
1 paper
NM_001080480.3
p.P440S
c.1318C>T
1 paper
NM_001080480.3
p.P440L
c.1319C>T
1 paper
NM_001080480.3
p.L331R
c.992T>G
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