Varaico: Literature-Extracted Genetic Variants

Gene:AWAT2
Variant:p.D95G

AWAT2

27 papers

RefSeq Summary

This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty ac...

Pfam Domains

DAGATaa 38–333UCSCDiacylglycerol acyltransferase

Gene Aliases

HGNC Name

acyl-CoA wax alcohol acyltransferase 2

HGNC Previous Symbol

DGAT2L4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002254.1
p.D95G
c.284A>G
Surrounding Variants
1 paper
NM_001002254.1
p.L90P
c.269T>C
1 paper
NM_001002254.1
p.I103N
c.308T>A
1 paper
NM_001002254.1
p.C106*
c.318C>A
2 papers
NM_001002254.1
p.K129N
c.387G>T
2 papers
NM_001002254.1
p.K129N
c.387G>C
1 paper
NM_001002254.1
p.K129K
c.387G>A
1 paper
NM_001002254.1
p.G142E
c.425G>A
1 paper
NM_001002254.1
p.M147T
c.440T>C
1 paper
NM_001002254.1
p.L150P
c.449T>C
1 paper
NM_001002254.1
p.H75Y
c.223C>T
2 papers
NM_001002254.1
p.R65Q
c.194G>A
1 paper
NM_001002254.1
p.F58S
c.173T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."