Varaico: Literature-Extracted Genetic Variants

Gene:ISCA1
Variant:p.V10G

ISCA1

33 papers

RefSeq Summary

ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[su...

Pfam Domains

Fe-S_biosynaa 23–125UCSCIron-sulphur cluster biosynthesis

Gene Aliases

HGNC Name

iron-sulfur cluster assembly 1

HGNC Previous Symbol

HBLD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_030940.4
p.V10G
c.29T>G
Surrounding Variants
1 paper
NM_030940.4
p.S14I
c.41G>T
1 paper
NM_030940.4
p.L27L
c.81G>T
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