Varaico: Literature-Extracted Genetic Variants

Gene:HEPHL1
Variant:p.T312A

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.T312A
c.934A>G
Surrounding Variants
1 paper
NM_001098672.2
p.G310A
c.929G>C
1 paper
NM_001098672.2
p.R319W
c.955C>T
1 paper
NM_001098672.2
p.R319Q
c.956G>A
1 paper
NM_001098672.2
p.V323I
c.967G>A
1 paper
NM_001098672.2
p.A337T
c.1009G>A
1 paper
NM_001098672.2
p.E338D
c.1014G>C
1 paper
NM_001098672.2
p.E338D
c.1014G>T
1 paper
NM_001098672.2
p.G277R
c.829G>A
1 paper
NM_001098672.2
p.G277R
c.829G>C
1 paper
NM_001098672.2
p.A270Splc
c.809-2A>T
3 papers
NM_001098672.2
p.A355T
c.1063G>A
1 paper
NM_001098672.2
p.A355Splc
c.1064-61C>T
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