Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.M98L

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
1 paper
NM_018194.6
p.M98L
c.292A>T
Surrounding Variants
1 paper
NM_018194.6
p.H92D
c.274C>G
1 paper
NM_018194.6
p.V117I
c.349G>A
1 paper
NM_018194.6
p.H120R
c.359A>G
4 papers
NM_018194.6
p.T122_I123del1
c.365_367delCCA
1 paper
NM_018194.6
p.T122S
c.364A>T
1 paper
NM_018194.6
p.Q129*
c.385C>T
1 paper
NM_018194.6
p.R131P
c.392G>C
1 paper
NM_018194.6
p.S145Y
c.434C>A
1 paper
NM_018194.6
p.Q150_E153del4
c.448_458del12
1 paper
NM_018194.6
p.E153K
c.457G>A
1 paper
NM_018194.6
p.E154K
c.460G>A
1 paper
NM_018194.6
p.R158M
c.473G>T
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