Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB2

NDUFB2

69 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogen...

Pfam Domains

NADH_B2aa 37–104UCSCNADH dehydrogenase 1 beta subcomplex subunit 2

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B2

HGNC Alias Symbols

AGGG; CI-AGGG

Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
2 papers
NM_004546.3
p.G15D
c.44G>A
1 paper
NM_004546.3
p.M1insFs
c.3dupG
1 paper
NM_004546.3
p.M1I
c.3G>A
1 paper
NM_004546.3
p.A3V
c.8C>T
1 paper
NM_004546.3
p.R12_R19insFs
c.34_56dup23
1 paper
NM_004546.3
p.V13_G14insFs
c.39_40insCC
1 paper
NM_004546.3
p.G27E
c.80G>A
1 paper
NM_004546.3
p.H33Splc
c.98+6T>C
1 paper
NM_004546.3
p.H33Splc
c.99-1996C>G
1 paper
NM_004546.3
p.H33Splc
c.99-1G>A
1 paper
NM_004546.3
p.Y44C
c.131A>G
1 paper
NM_004546.3
p.Q46P
c.137A>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."