Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.D178N

HEPHL1

106 papers

Pfam Domains

Cu-oxidase_3aa 98–210UCSCMulticopper oxidase
Cu-oxidase_2aa 290–367UCSCMulticopper oxidase
Cu-oxidase_3aa 441–564UCSCMulticopper oxidase
Cu-oxidase_3aa 808–909UCSCMulticopper oxidase
Cu-oxidase_2aa 947–1068UCSCMulticopper oxidase

Gene Aliases

HGNC Name

hephaestin like 1

HGNC Alias Symbol

DKFZp686F22190

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001098672.2
p.D178N
c.532G>A
Surrounding Variants
1 paper
NM_001098672.2
p.T175I
c.524C>T
1 paper
NM_001098672.2
p.H187_H189delFs
c.559_566del8
2 papers
NM_001098672.2
p.G159G
c.477G>A
1 paper
NM_001098672.2
p.V156V
c.468T>A
1 paper
NM_001098672.2
p.G199G
c.597G>T
1 paper
NM_001098672.2
p.P203H
c.608C>A
1 paper
NM_001098672.2
p.G145E
c.434G>A
1 paper
NM_001098672.2
p.G145R
c.433G>A
1 paper
NM_001098672.2
p.G145R
c.433G>C
1 paper
NM_001098672.2
p.G210Splc
c.629-1G>A
3 papers
NM_001098672.2
p.R219W
c.655C>T
1 paper
NM_001098672.2
p.R224*
c.670C>T
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