Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.K562*

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
2 papers
NM_001098672.2
p.K562*
c.1684A>T
Surrounding Variants
1 paper
NM_001098672.2
p.L559_L566del8
c.1675_1697del24
1 paper
NM_001098672.2
p.T571I
c.1712C>T
1 paper
NM_001098672.2
p.T550I
c.1649C>T
1 paper
NM_001098672.2
p.V526I
c.1576G>A
1 paper
NM_001098672.2
p.P523H
c.1568C>A
1 paper
NM_001098672.2
p.G502R
c.1504G>A
1 paper
NM_001098672.2
p.G502R
c.1504G>C
1 paper
NM_001098672.2
p.T468A
c.1402A>G
1 paper
NM_001098672.2
p.K462N
c.1386G>C
1 paper
NM_001098672.2
p.K462N
c.1386G>T
1 paper
NM_001098672.2
p.R446K
c.1337G>A
1 paper
NM_001098672.2
p.V431G
c.1292T>G
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