Varaico: Literature-Extracted Genetic Variants

Gene:HIGD2A

HIGD2A

7 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mit...

Pfam Domains

HIG_1_Naa 45–96UCSCHypoxia induced protein conserved region

Gene Aliases

HGNC Name

HIG1 hypoxia inducible domain family member 2A

HGNC Alias Symbols

MGC2198; RCF1B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
1 paper
NM_138820.4
p.V40L
c.118G>C
1 paper
NM_138820.4
p.T43insFs
c.127_128insA
1 paper
NM_138820.4
p.R44_P50delFs
c.131_150del20
1 paper
NM_138820.4
p.E45_P50delFs
c.133_149del17
1 paper
NM_138820.4
p.N46_V49delFs
c.136_145del10
1 paper
NM_138820.4
p.P47_P50delFs
c.141_150del10
1 paper
NM_138820.4
p.P47L
c.140C>T
1 paper
NM_138820.4
p.V48_V49del1
c.144_146delGGT
1 paper
NM_138820.4
p.V48_I51delFs
c.142_151del10
1 paper
NM_138820.4
p.V48_P50delFs
c.144_150del7
1 paper
NM_138820.4
p.R69Q
c.206G>A
1 paper
NM_138820.4
p.Q76*
c.226C>T
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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."