Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.F262S

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.F262S
c.785T>C
Surrounding Variants
1 paper
NM_001098672.2
p.A270V
c.809C>T
2 papers
NM_001098672.2
p.N251D
c.751A>G
1 paper
NM_001098672.2
p.N251_D253del0
c.753_758del6
1 paper
NM_001098672.2
p.S238N
c.713G>A
1 paper
NM_001098672.2
p.S238T
c.713G>C
1 paper
NM_001098672.2
p.R224L
c.671G>T
1 paper
NM_001098672.2
p.R224*
c.670C>T
3 papers
NM_001098672.2
p.R219W
c.655C>T
1 paper
NM_001098672.2
p.G210Splc
c.629-1G>A
1 paper
NM_001098672.2
p.P203H
c.608C>A
1 paper
NM_001098672.2
p.G199G
c.597G>T
1 paper
NM_001098672.2
p.H187_H189delFs
c.559_566del8
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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."