Varaico: Literature-Extracted Genetic Variants

Gene:ISCA2
Variant:p.T13del1

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
1 paper
NM_194279.4
p.T13del1
c.37_39delACG
Surrounding Variants
1 paper
NM_194279.4
p.P19R
c.56C>G
4 papers
NM_194279.4
p.A2D
c.5C>A
1 paper
NM_194279.4
p.R24G
c.70A>G
1 paper
NM_194279.4
p.L30P
c.89T>C
1 paper
NM_194279.4
p.R35P
c.104G>C
1 paper
NM_194279.4
p.E37_S39del3
c.109_116del9
1 paper
NM_194279.4
p.S39*
c.116C>A
1 paper
NM_194279.4
p.G46V
c.137G>T
7 papers
NM_194279.4
p.L52F
c.154C>T
1 paper
NM_194279.4
p.C56G
c.166T>G
1 paper
NM_194279.4
p.Q58E
c.172C>G
1 paper
NM_194279.4
p.Q58_R59Splc
c.175-2A>G
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