Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.N443K

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
3 papers
NM_018194.6
p.N443K
c.1329C>G
Surrounding Variants
6 papers
NM_018194.6
p.N443K
c.1329C>A
1 paper
NM_018194.6
p.L447P
c.1340T>C
1 paper
NM_018194.6
p.L439Q
c.1316T>A
1 paper
NM_018194.6
p.G453R
c.1357G>A
1 paper
NM_018194.6
p.A430T
c.1288G>A
1 paper
NM_018194.6
p.A429T
c.1285G>A
1 paper
NM_018194.6
p.R425C
c.1273C>T
1 paper
NM_018194.6
p.Q463*
c.1387C>T
2 papers
NM_001170564.3
p.R287L
c.860G>T
2 papers
NM_018194.6
p.R424C
c.1270C>T
1 paper
NM_018194.6
p.Q422R
c.1265A>G
2 papers
NM_018194.6
p.R417*
c.1249C>T
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