Varaico: Literature-Extracted Genetic Variants

Gene:AWAT1
Variant:p.L150P

AWAT1

21 papers

RefSeq Summary

The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are e...

Pfam Domains

DAGATaa 34–328UCSCDiacylglycerol acyltransferase

Gene Aliases

HGNC Name

acyl-CoA wax alcohol acyltransferase 1

HGNC Previous Symbol

DGAT2L3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001013579.3
p.L150P
c.449T>C
Surrounding Variants
1 paper
NM_001013579.3
p.L107I
c.319C>A
1 paper
NM_001013579.3
p.T85_I86Splc
c.256-192T>C
1 paper
NM_001013579.3
p.T194T
c.582C>G
1 paper
NM_001013579.3
p.H77L
c.230A>T
1 paper
NM_001013579.3
p.R205C
c.613C>T
1 paper
NM_001013579.3
p.W27*
c.81G>A
1 paper
NM_001013579.3
p.W27*
c.80G>A
1 paper
NM_001013579.3
p.A24A
c.72C>A
1 paper
NM_001013579.3
p.A24D
c.71C>A
1 paper
NM_001013579.3
p.F10S
c.29T>C
1 paper
NM_001013579.3
p.R246H
c.737G>A
1 paper
NM_001013579.3
p.P283S
c.847C>T
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