Varaico: Literature-Extracted Genetic Variants

Gene:HHAT
Variant:p.V28A

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.V28A
c.83T>C
Surrounding Variants
1 paper
NM_018194.6
p.E24_V25delFs
c.72_73delAG
1 paper
NM_018194.6
p.A13V
c.38C>T
1 paper
NM_018194.6
p.L9I
c.25C>A
1 paper
NM_018194.6
p.A8E
c.23C>A
1 paper
NM_018194.6
p.R4Q
c.11G>A
5 papers
NM_018194.6
p.R4*
c.10C>T
1 paper
NM_018194.6
p.L2L
c.4C>T
1 paper
NM_018194.6
p.M1L
c.1A>C
1 paper
NM_018194.6
p.M1L
c.1A>T
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