Varaico: Literature-Extracted Genetic Variants

Gene:ISCA1

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
1–12 of 14 variants
9 papers
NM_030940.4
p.E87K
c.259G>A
3 papers
NM_030940.4
p.Y101C
c.302A>G
2 papers
NM_030940.4
p.V10G
c.29T>G
1 paper
NM_030940.4
p.S14I
c.41G>T
1 paper
NM_030940.4
p.L27L
c.81G>T
1 paper
NM_030940.4
p.V82F
c.244G>T
1 paper
NM_030940.4
p.I86delFs
c.256delT
1 paper
NM_030940.4
p.G96V
c.287G>T
1 paper
NM_030940.4
p.E103D
c.309A>T
1 paper
NM_030940.4
p.E103D
c.309A>C
1 paper
NM_030940.4
p.C121S
c.361T>A
1 paper
NM_030940.4
p.C121S
c.362G>C
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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."