Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.L241_C242del1

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.L241_C242del1
c.723_725delGTG
Surrounding Variants
1 paper
NM_018194.6
p.G249D
c.746G>A
1 paper
NM_018194.6
p.R250P
c.749G>C
1 paper
NM_018194.6
p.W256C
c.768G>C
8 papers
NM_018194.6
p.L257P
c.770T>C
1 paper
NM_001170564.3
p.E122_L123del1
c.365_367delAGC
1 paper
NM_018194.6
p.L264L
c.790C>T
1 paper
NM_018194.6
p.L277M
c.829C>A
1 paper
NM_018194.6
p.E278D
c.834G>C
1 paper
NM_018194.6
p.E278D
c.834G>T
1 paper
NM_018194.6
p.G286Splc
c.856+10G>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."