Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS6
Variant:p.E16*

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
1 paper
NM_004553.6
p.E16*
c.46G>T
Surrounding Variants
1 paper
NM_004553.6
p.G15D
c.44G>A
1 paper
NM_004553.6
p.L11insFs
c.32_33dupTG
1 paper
NM_004553.6
p.L23insFs
c.67dupC
1 paper
NM_004553.6
p.L23fs
c.67_68fs
1 paper
NM_004553.6
p.F7F
c.21C>T
1 paper
NM_004553.6
p.C27Y
c.80G>A
1 paper
NM_004553.6
p.A3T
c.7G>A
1 paper
NM_004553.6
p.M1I
c.3G>A
1 paper
NM_004553.6
p.A2_L10delFs
c.6_28del23
1 paper
NM_004553.6
p.E37*
c.109G>T
1 paper
NM_004553.6
p.Q44*
c.130C>T
1 paper
NM_004553.6
p.Q44_V45Splc
c.132+1G>C
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