Varaico: Literature-Extracted Genetic Variants

Gene:NDUFB2
Variant:p.M65delFs

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
Selected Variant
1 paper
NM_004546.3
p.M65delFs
c.193_194delAT
Surrounding Variants
1 paper
NM_004546.3
p.S62N
c.185G>A
1 paper
NM_004546.3
p.I69I
c.207T>A
1 paper
NM_004546.3
p.S58_E59ins0
c.173_175dupGCG
1 paper
NM_004546.3
p.F56L
c.166T>C
1 paper
NM_004546.3
p.W74R
c.220T>A
1 paper
NM_004546.3
p.W74R
c.220T>C
1 paper
NM_004546.3
p.H75delFs
c.225delT
1 paper
NM_004546.3
p.S53C
c.158C>G
1 paper
NM_004546.3
p.R52K
c.155G>A
1 paper
NM_004546.3
p.R52G
c.154A>G
1 paper
NM_004546.3
p.P48S
c.142C>T
1 paper
NM_004546.3
p.Q46P
c.137A>C
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