Varaico: Literature-Extracted Genetic Variants

Gene:GLRX5
Variant:p.D123H

GLRX5

57 papers

RefSeq Summary

This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in thi...

Pfam Domains

Glutaredoxinaa 54–119UCSCGlutaredoxin

Gene Aliases

HGNC Name

glutaredoxin 5

HGNC Previous Symbol

C14orf87

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016417.3
p.D123H
c.367G>C
Surrounding Variants
1 paper
NM_016417.3
p.D123N
c.367G>A
1 paper
NM_016417.3
p.F118S
c.353T>C
3 papers
NM_016417.3
p.M128K
c.383T>A
2 papers
NM_016417.3
p.M128T
c.383T>C
2 papers
NM_016417.3
p.G116D
c.347G>A
1 paper
NM_016417.3
p.G116V
c.347G>T
1 paper
NM_016417.3
p.G116S
c.346G>A
1 paper
NM_016417.3
p.N131insFs
c.392dupA
1 paper
NM_016417.3
p.N131fs
c.391_392fs
1 paper
NM_016417.3
p.T108_P110delFs
c.324_330del7
1 paper
NM_016417.3
p.L138P
c.413T>C
1 paper
NM_016417.3
p.D102D
c.306C>T
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