Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1

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
1–12 of 138 variants
3 papers
NM_001098672.2
p.R219W
c.655C>T
3 papers
NM_001098672.2
p.A355T
c.1063G>A
2 papers
NM_001098672.2
p.Y37N
c.109T>A
2 papers
NM_001098672.2
p.G159G
c.477G>A
2 papers
NM_001098672.2
p.N251D
c.751A>G
2 papers
NM_001098672.2
p.K562*
c.1684A>T
2 papers
NM_001098672.2
p.R953*
c.2857C>T
2 papers
NM_001098672.2
p.S1011C
c.3031A>T
2 papers
NM_001098672.2
p.E1022K
c.3064G>A
1 paper
NM_001098672.2
p.A7V
c.20C>T
1 paper
NM_001098672.2
p.F15S
c.44T>C
1 paper
NM_001098672.2
p.L18L
c.54G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."