Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS6
Variant:p.L103_D104Splc

NDUFS6

60 papers

RefSeq Summary

This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer...

Pfam Domains

zf-CHCCaa 82–119UCSCZinc-finger domain

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit S6

HGNC Alias Symbol

CI-13kA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004553.6
p.L103_D104Splc
c.309+2T>C
Surrounding Variants
11 papers
NM_004553.6
p.L103_D104Splc
c.309+5G>A
1 paper
NM_004553.6
p.N102I
c.305A>T
1 paper
NM_004553.6
p.L103_D104Splc
c.309+44G>A
1 paper
NM_004553.6
p.G89C
c.265G>T
1 paper
NM_004553.6
p.D88E
c.264T>A
1 paper
NM_004553.6
p.D88E
c.264T>G
1 paper
NM_004553.6
p.A86T
c.256G>A
2 papers
NM_004553.6
p.R83W
c.247C>T
1 paper
NM_004553.6
p.Q75delFs
c.225delG
1 paper
NM_004553.6
p.Q75*
c.223C>T
3 papers
NM_004553.6
p.V63fs
c.187_188fs
1 paper
NM_004553.6
p.E62_V63Splc
c.187-2A>G
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