Varaico: Literature-Extracted Genetic Variants

Gene:HHATL
Variant:p.R458G

HHATL

58 papers

Pfam Domains

MBOATaa 133–450UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

hedgehog acyltransferase like

HGNC Previous Symbol

GUP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020707.4
p.R458G
c.1372C>G
Surrounding Variants
1 paper
NM_020707.4
p.A457S
c.1369G>T
1 paper
NM_020707.4
p.N443H
c.1327A>C
1 paper
NM_020707.4
p.S424_A429delFs
c.1270_1285del16
1 paper
NM_020707.4
p.R428Q
c.1283G>A
1 paper
NM_020707.4
p.R428W
c.1282C>T
1 paper
NM_020707.4
p.S424fs
c.1270_1271fs
1 paper
NM_020707.4
p.G464V
c.1391G>T
1 paper
NM_020707.4
p.K484N
c.1452G>T
1 paper
NM_020707.4
p.K484N
c.1452G>C
1 paper
NM_020707.4
p.R486H
c.1457G>A
1 paper
NM_020707.4
p.P503S
c.1507C>T
1 paper
NM_020707.4
p.R414Q
c.1241G>A
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."