Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.G359R

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.G359R
c.1075G>C
Surrounding Variants
1 paper
NM_001098672.2
p.G359R
c.1075G>A
1 paper
NM_001098672.2
p.M375V
c.1123A>G
1 paper
NM_001098672.2
p.R381C
c.1141C>T
1 paper
NM_001098672.2
p.R381L
c.1142G>T
1 paper
NM_001098672.2
p.A355Splc
c.1064-61C>T
1 paper
NM_001098672.2
p.G397C
c.1189G>T
1 paper
NM_001098672.2
p.S402I
c.1205G>T
1 paper
NM_001098672.2
p.S411Splc
c.1232+9C>G
3 papers
NM_001098672.2
p.A355T
c.1063G>A
1 paper
NM_001098672.2
p.D412H
c.1234G>C
1 paper
NM_001098672.2
p.G425R
c.1273G>A
1 paper
NM_001098672.2
p.G425R
c.1273G>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."