Varaico: Literature-Extracted Genetic Variants

Gene:HHAT

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
1–12 of 131 variants
12 papers
NM_018194.6
p.G287V
c.860G>T
8 papers
NM_018194.6
p.L257P
c.770T>C
7 papers
NM_018194.6
p.W386C
c.1158G>C
6 papers
NM_018194.6
p.W386C
c.1158G>T
6 papers
NM_018194.6
p.N443K
c.1329C>A
5 papers
NM_018194.6
p.R4*
c.10C>T
4 papers
NM_018194.6
p.T122_I123del1
c.365_367delCCA
4 papers
NM_018194.6
p.L365_S367del3
c.1093_1100del9
3 papers
NM_018194.6
p.S182N
c.545G>A
3 papers
NM_018194.6
p.M334K
c.1001T>A
3 papers
NM_018194.6
p.N443K
c.1329C>G
2 papers
NM_018194.6
p.E33K
c.97G>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."