Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS6
Variant:p.T107fs

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.T107fs
c.319_320fs
Surrounding Variants
1 paper
NM_004553.6
p.E106fs
c.316_317fs
2 papers
NM_004553.6
p.T107_K108delFs
c.320_323del4
1 paper
NM_004553.6
p.E106_T107delFs
c.316_319del4
1 paper
NM_004553.6
p.G110C
c.328G>T
1 paper
NM_004553.6
p.C112insFs
c.335dupG
1 paper
NM_004553.6
p.C112fs
c.334_335fs
1 paper
NM_004553.6
p.C112_R120Fs
c.334_359delinsAACAAACAAAAAFs
10 papers
NM_004553.6
p.C115R
c.343T>C
14 papers
NM_004553.6
p.C115Y
c.344G>A
3 papers
NM_004553.6
p.C115F
c.344G>T
4 papers
NM_004553.6
p.Q118*
c.352C>T
1 paper
NM_004553.6
p.F119L
c.355T>C
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