Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB3
Variant:p.M1I

NDUFB3

84 papers

RefSeq Summary

This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This pr...

Pfam Domains

NDUF_B12aa 42–98UCSCNADH-ubiquinone oxidoreductase B12 subunit family

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B3

HGNC Alias Symbol

B12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002491.3
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_002491.3
p.M1I
c.3G>C
1 paper
NM_002491.3
p.M1I
c.3G>T
1 paper
NM_002491.3
p.A2_H7del6
c.4_20del18
1 paper
NM_002491.3
p.M1V
c.1A>G
1 paper
NM_002491.3
p.M1_H3del0
c.2_7del6
1 paper
NM_002491.3
p.E4V
c.11A>T
1 paper
NM_002491.3
p.H5insFs
c.14_15insA
1 paper
NM_002491.3
p.H7N
c.19C>A
2 papers
NM_002491.3
p.H7Y
c.19C>T
1 paper
NM_002491.3
p.H7L
c.20A>T
1 paper
NM_002491.3
p.E8Q
c.22G>C
1 paper
NM_002491.3
p.H9P
c.26A>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."