Varaico: Literature-Extracted Genetic Variants

Gene:MBOAT1
Variant:p.T257M

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
2 papers
NM_001080480.3
p.T257M
c.770C>T
Surrounding Variants
1 paper
NM_001080480.3
p.L258P
c.773T>C
1 paper
NM_001080480.3
p.K244_S251del0
c.730_753del24
1 paper
NM_001080480.3
p.A276A
c.828A>C
1 paper
NM_001080480.3
p.P279L
c.836C>T
1 paper
NM_001080480.3
p.K293N
c.879G>T
1 paper
NM_001080480.3
p.K293N
c.879G>C
1 paper
NM_001080480.3
p.E221*
c.661G>T
1 paper
NM_001080480.3
p.L331R
c.992T>G
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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."