Varaico: Literature-Extracted Genetic Variants

Gene:HHATL
Variant:p.M403V

HHATL

58 papers

Pfam Domains

MBOATaa 133–450UCSCMBOAT, membrane-bound O-acyltransferase family

Gene Aliases

HGNC Name

hedgehog acyltransferase like

HGNC Previous Symbol

GUP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_020707.4
p.M403V
c.1207A>G
Surrounding Variants
1 paper
NM_020707.4
p.R414Q
c.1241G>A
1 paper
NM_020707.4
p.W389C
c.1167G>T
1 paper
NM_020707.4
p.W389C
c.1167G>C
1 paper
NM_020707.4
p.L388Q
c.1163T>A
1 paper
NM_020707.4
p.T377I
c.1130C>T
1 paper
NM_020707.4
p.L366_A368del3
c.1096_1103del9
1 paper
NM_020707.4
p.H354_L366delFs
c.1060_1096del37
1 paper
NM_020707.4
p.G356V
c.1067G>T
1 paper
NM_020707.4
p.H354fs
c.1060_1061fs
1 paper
NM_020707.4
p.N353S
c.1058A>G
1 paper
NM_020707.4
p.S424fs
c.1270_1271fs
1 paper
NM_020707.4
p.R428W
c.1282C>T
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