Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB8
Variant:p.C144W

NDUFB8

77 papers

Pfam Domains

NDUF_B8aa 15–186UCSCNADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit B8

HGNC Alias Symbols

ASHI; CI-ASHI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_005004.4
p.C144W
c.432C>G
Surrounding Variants
1 paper
NM_005004.4
p.M143V
c.427A>G
1 paper
NM_005004.4
p.D148H
c.442G>C
1 paper
NM_005004.4
p.P151L
c.452C>T
1 paper
NM_005004.4
p.S125P
c.373T>C
1 paper
NM_005004.4
p.N113I
c.338A>T
1 paper
NM_005004.4
p.N113Y
c.337A>T
1 paper
NM_005004.4
p.Y112H
c.334T>C
1 paper
NM_005004.4
p.P104_M105Splc
c.312+109A>C
1 paper
NM_005004.4
p.E103fs
c.307_308fs
1 paper
NM_005004.4
p.N100D
c.298A>G
1 paper
NM_005004.4
p.G96V
c.287G>T
1 paper
NM_005004.4
p.W92_D93del1
c.276_278delTCC
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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."