Varaico: Literature-Extracted Genetic Variants

Gene:ISCA2
Variant:p.R105G

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
Selected Variant
8 papers
NM_194279.4
p.R105G
c.313A>G
Surrounding Variants
1 paper
NM_194279.4
p.S110insFs
c.329_330insTT
1 paper
NM_194279.4
p.D111H
c.331G>C
1 paper
NM_194279.4
p.D111fs
c.331_332fs
7 papers
NM_194279.4
p.F99fs
c.295_296fs
6 papers
NM_194279.4
p.F99delFs
c.295delT
8 papers
NM_194279.4
p.S112G
c.334A>G
1 paper
NM_194279.4
p.K117N
c.351A>C
7 papers
NM_194279.4
p.A119T
c.355G>A
1 paper
NM_194279.4
p.V121L
c.361G>C
1 paper
NM_194279.4
p.V121L
c.361G>T
4 papers
NM_194279.4
p.P138R
c.413C>G
1 paper
NM_194279.4
p.Q141P
c.422A>C
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."