Varaico: Literature-Extracted Genetic Variants

Gene:HHATL
Variant:p.F69L

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
1 paper
NM_020707.4
p.F69L
c.207C>G
Surrounding Variants
1 paper
NM_020707.4
p.F69L
c.207C>A
1 paper
NM_020707.4
p.F69L
c.205T>C
1 paper
NM_020707.4
p.W65C
c.195G>T
1 paper
NM_020707.4
p.W65C
c.195G>C
1 paper
NM_020707.4
p.I76delins
c.228delinsT
1 paper
NM_020707.4
p.A79V
c.236C>T
1 paper
NM_020707.4
p.L80I
c.238C>A
1 paper
NM_020707.4
p.G82delins
c.246delinsTCTCCGG
1 paper
NM_020707.4
p.V84M
c.250G>A
1 paper
NM_020707.4
p.R98H
c.293G>A
1 paper
NM_020707.4
p.L122_L123del1
c.366_368delAGC
1 paper
NM_020707.4
p.L123del1
c.367_368delAAG
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