Varaico: Literature-Extracted Genetic Variants

Gene:HHATL

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
1–12 of 73 variants
3 papers
NM_020707.4
p.M403V
c.1207A>G
2 papers
NM_020707.4
p.R458G
c.1372C>G
1 paper
NM_020707.4
p.T5S
c.13A>T
1 paper
NM_020707.4
p.R48*
c.142C>T
1 paper
NM_020707.4
p.R56W
c.166C>T
1 paper
NM_020707.4
p.R56Q
c.167G>A
1 paper
NM_020707.4
p.K57T
c.170A>C
1 paper
NM_020707.4
p.W65C
c.195G>T
1 paper
NM_020707.4
p.W65C
c.195G>C
1 paper
NM_020707.4
p.F69L
c.205T>C
1 paper
NM_020707.4
p.F69L
c.207C>G
1 paper
NM_020707.4
p.F69L
c.207C>A
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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."