Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.G859R

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.G859R
c.2575G>C
Surrounding Variants
1 paper
NM_001098672.2
p.G859R
c.2575G>A
1 paper
NM_001098672.2
p.M814V
c.2440A>G
1 paper
NM_001098672.2
p.G812G
c.2436C>T
1 paper
NM_001098672.2
p.E860*
c.2578G>T
1 paper
NM_001098672.2
p.Y864C
c.2591A>G
1 paper
NM_001098672.2
p.P879R
c.2636C>G
1 paper
NM_001098672.2
p.T896M
c.2687C>T
1 paper
NM_001098672.2
p.D922D
c.2766T>C
1 paper
NM_001098672.2
p.P952R
c.2855C>G
2 papers
NM_001098672.2
p.R953*
c.2857C>T
1 paper
NM_001098672.2
p.R957H
c.2870G>A
1 paper
NM_001098672.2
p.E963D
c.2889A>C
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