Varaico: Literature-Extracted Genetic Variants

Gene:GLRX5
Variant:p.C67Y

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
2 papers
NM_016417.3
p.C67Y
c.200G>A
Surrounding Variants
2 papers
NM_016417.3
p.C67S
c.200G>C
2 papers
NM_016417.3
p.C67S
c.199T>A
4 papers
NM_016417.3
p.Q66P
c.197A>C
3 papers
NM_016417.3
p.Q66*
c.196C>T
1 paper
NM_016417.3
p.G68G
c.204C>T
1 paper
NM_016417.3
p.S70G
c.208A>G
1 paper
NM_016417.3
p.Q64*
c.190C>T
1 paper
NM_016417.3
p.P62L
c.185C>T
2 papers
NM_016417.3
p.K59Q
c.175A>C
1 paper
NM_016417.3
p.K59E
c.175A>G
1 paper
NM_016417.3
p.F57L
c.171C>A
1 paper
NM_016417.3
p.F57L
c.171C>G
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