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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MBOAT1

Variant:p.R108*

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:20144317 T>A

NM_001080480.3

p.R108*

c.322A>T

exact variant not in gnomAD34 overlapping SVs

Surrounding Variants

1 paper

chr6:20146902 T>G

NM_001080480.3

p.R108Splc

c.324-2587A>C

Exome: n/aGenome: 0.0% (AC=57, hom=0)38 overlapping SVs

1 paper

chr6:20151208 A>T

NM_001080480.3

p.T100T

c.300T>A

exact variant not in gnomAD35 overlapping SVs

1 paper

chr6:20152629 G>A

NM_001080480.3

p.F80F

c.240C>T

Exome: 0.0% (AC=456, hom=2)Genome: 0.0% (AC=20, hom=0)36 overlapping SVs

2 papers

chr6:20152718 G>A

NM_001080480.3

p.R51C

c.151C>T

Exome: 0.0% (AC=6, hom=0)Genome: n/a35 overlapping SVs

1 paper

chr6:20152765 T>C

NM_001080480.3

p.N35S

c.104A>G

exact variant not in gnomAD35 overlapping SVs

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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."