Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.W386C

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
7 papers
NM_018194.6
p.W386C
c.1158G>C
Surrounding Variants
6 papers
NM_018194.6
p.W386C
c.1158G>T
1 paper
NM_018194.6
p.G381S
c.1141G>A
2 papers
NM_018194.6
p.L394L
c.1180C>T
1 paper
NM_001170564.3
p.L257P
c.770T>C
1 paper
NM_018194.6
p.W378*
c.1134G>A
1 paper
NM_018194.6
p.W378*
c.1133G>A
1 paper
NM_018194.6
p.W378fs
c.1132_1133fs
1 paper
NM_018194.6
p.W378delFs
c.1133delG
1 paper
NM_018194.6
p.Y377C
c.1130A>G
1 paper
NM_018194.6
p.Y377H
c.1129T>C
1 paper
NM_018194.6
p.V398L
c.1192G>C
1 paper
NM_018194.6
p.V398L
c.1192G>T
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