Varaico: Literature-Extracted Genetic Variants

Gene:ISCA2

ISCA2

55 papers

RefSeq Summary

The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur protein...

Pfam Domains

Fe-S_biosynaa 49–148UCSCIron-sulphur cluster biosynthesis

Gene Aliases

HGNC Name

iron-sulfur cluster assembly 2

HGNC Previous Symbol

HBLD1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
25 papers
NM_194279.4
p.G77S
c.229G>A
8 papers
NM_194279.4
p.R105G
c.313A>G
8 papers
NM_194279.4
p.S112G
c.334A>G
7 papers
NM_194279.4
p.L52F
c.154C>T
7 papers
NM_194279.4
p.F99fs
c.295_296fs
7 papers
NM_194279.4
p.A119T
c.355G>A
6 papers
NM_194279.4
p.F99delFs
c.295delT
4 papers
NM_194279.4
p.A2D
c.5C>A
4 papers
NM_194279.4
p.P138R
c.413C>G
1 paper
NM_194279.4
p.T13del1
c.37_39delACG
1 paper
NM_194279.4
p.P19R
c.56C>G
1 paper
NM_194279.4
p.R24G
c.70A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."