Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB4
Variant:p.N55T

NDUFB4

54 papers

RefSeq Summary

This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is...

Pfam Domains

NDUF_B4aa 5–128UCSCNADH-ubiquinone oxidoreductase B15 subunit (NDUFB4)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B4

HGNC Alias Symbol

B15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004547.6
p.N55T
c.164A>C
Surrounding Variants
1 paper
NM_004547.6
p.P54R
c.161C>G
1 paper
NM_004547.6
p.R56H
c.167G>A
1 paper
NM_004547.6
p.R57L
c.170G>T
1 paper
NM_004547.6
p.Y51F
c.152A>T
1 paper
NM_004547.6
p.L59L
c.177C>T
1 paper
NM_004547.6
p.A41A
c.123C>A
1 paper
NM_004547.6
p.L37*
c.110T>A
1 paper
NM_004547.6
p.R31G
c.91C>G
1 paper
NM_004547.6
p.T29T
c.87C>T
1 paper
NM_004547.6
p.E28G
c.83A>G
1 paper
NM_004547.6
p.P27L
c.80C>T
1 paper
NM_004547.6
p.S26F
c.77C>T
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