Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.V298L

HHAT

97 papers

RefSeq Summary

'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002].

Pfam Domains

MBOATaa 125–442UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

hedgehog acyltransferase

HGNC Alias Symbols

FLJ10724; MART-2; MART2; Skn; rasp; GUP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018194.6
p.V298L
c.892G>C
Surrounding Variants
1 paper
NM_018194.6
p.V298L
c.892G>T
1 paper
NM_018194.6
p.A291V
c.872C>T
1 paper
NM_018194.6
p.A289V
c.866C>T
12 papers
NM_001170564.3
p.G150V
c.449G>T
NM_018194.6
p.G287V
c.860G>T
2 papers
NM_018194.6
p.R312S
c.934C>A
2 papers
NM_018194.6
p.D314V
c.941A>T
1 paper
NM_018194.6
p.P319L
c.956C>T
1 paper
NM_018194.6
p.A320T
c.958G>A
1 paper
NM_018194.6
p.P322P
c.966C>A
1 paper
NM_018194.6
p.R323C
c.967C>T
2 papers
NM_018194.6
p.R323H
c.968G>A
1 paper
NM_018194.6
p.C324W
c.972C>G
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