Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.G217A

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
2 papers
NM_018194.6
p.G217A
c.650G>C
Surrounding Variants
1 paper
NM_018194.6
p.L220V
c.658C>G
1 paper
NM_018194.6
p.S221R
c.663C>G
1 paper
NM_018194.6
p.P202L
c.605C>T
1 paper
NM_018194.6
p.Y199F
c.596A>T
1 paper
NM_018194.6
p.W189R
c.565T>C
1 paper
NM_018194.6
p.C188R
c.562T>C
1 paper
NM_018194.6
p.S184R
c.552C>A
3 papers
NM_018194.6
p.S182N
c.545G>A
1 paper
NM_018194.6
p.T174T
c.522C>T
1 paper
NM_018194.6
p.L168L
c.502C>T
1 paper
NM_018194.6
p.R158M
c.473G>T
1 paper
NM_018194.6
p.E154K
c.460G>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."