Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.R287L

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_001170564.3
p.R287L
c.860G>T
Surrounding Variants
2 papers
NM_018194.6
p.R424C
c.1270C>T
1 paper
NM_018194.6
p.R425C
c.1273C>T
1 paper
NM_018194.6
p.Q422R
c.1265A>G
1 paper
NM_018194.6
p.A429T
c.1285G>A
1 paper
NM_018194.6
p.A430T
c.1288G>A
2 papers
NM_018194.6
p.R417*
c.1249C>T
1 paper
NM_018194.6
p.A416P
c.1246G>C
1 paper
NM_018194.6
p.L439Q
c.1316T>A
6 papers
NM_018194.6
p.N443K
c.1329C>A
3 papers
NM_018194.6
p.N443K
c.1329C>G
1 paper
NM_018194.6
p.L447P
c.1340T>C
1 paper
NM_018194.6
p.G453R
c.1357G>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."