Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.C1152S

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.C1152S
c.3455G>C
Surrounding Variants
1 paper
NM_001098672.2
p.C1152S
c.3454T>A
1 paper
NM_001098672.2
p.Q1147*
c.3439C>T
1 paper
NM_001098672.2
p.S1139C
c.3416C>G
1 paper
NM_001098672.2
p.T1130M
c.3389C>T
1 paper
NM_001098672.2
p.R1094Q
c.3281G>A
1 paper
NM_001098672.2
p.P1090P
c.3270A>G
1 paper
NM_001098672.2
p.T1088M
c.3263C>T
1 paper
NM_001098672.2
p.G1081*
c.3241G>T
1 paper
NM_001098672.2
p.R1067C
c.3199C>T
1 paper
NM_001098672.2
p.V1065F
c.3193G>T
1 paper
NM_001098672.2
p.M1059T
c.3176T>C
2 papers
NM_001098672.2
p.E1022K
c.3064G>A
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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."