Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.Y37N

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.Y37N
c.109T>A
Surrounding Variants
1 paper
NM_001098672.2
p.P42L
c.125C>T
1 paper
NM_001098672.2
p.G44V
c.131G>T
1 paper
NM_001098672.2
p.T28T
c.84G>A
1 paper
NM_001098672.2
p.R27T
c.80G>C
1 paper
NM_001098672.2
p.V47A
c.140T>C
1 paper
NM_001098672.2
p.T24_V25delFs
c.71_75del5
1 paper
NM_001098672.2
p.L18L
c.54G>C
1 paper
NM_001098672.2
p.F15S
c.44T>C
1 paper
NM_001098672.2
p.A7V
c.20C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."