Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.E33K

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.E33K
c.97G>A
Surrounding Variants
1 paper
NM_018194.6
p.E34K
c.100G>A
1 paper
NM_018194.6
p.E34D
c.102G>C
1 paper
NM_018194.6
p.E34D
c.102G>T
1 paper
NM_018194.6
p.Q38R
c.113A>G
1 paper
NM_018194.6
p.F40I
c.118T>A
1 paper
NM_018194.6
p.E43K
c.127G>A
1 paper
NM_018194.6
p.T46I
c.137C>T
1 paper
NM_018194.6
p.G49R
c.145G>A
1 paper
NM_018194.6
p.G49R
c.145G>C
1 paper
NM_018194.6
p.G50_L51delFs
c.150_153del4
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."