Varaico: Literature-Extracted Genetic Variants

ATP5F1A

144 papers

RefSeq Summary

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative p...

Pfam Domains

ATP-synt_ab_Naa 67–135UCSCATP synthase alpha/beta family, beta-barrel domain

ATP-synt_abaa 192–415UCSCATP synthase alpha/beta family, nucleotide-binding domain

ATP-synt_ab_Caa 422–547UCSCATP synthase alpha/beta chain, C terminal domain

Gene Aliases

HGNC Name

ATP synthase F1 subunit alpha

HGNC Previous Symbols

ATP5AL2; ATPM; ATP5A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004046.6

p.L109S

c.326T>C

Surrounding Variants

1 paper

NM_004046.6

p.E110Q

c.328G>C

1 paper

NM_004046.6

p.S106S

c.318C>G

1 paper

NM_004046.6

p.N113Y

c.337A>T

1 paper

NM_004046.6

p.N113I

c.338A>T

2 papers

NM_004046.6

p.V118_F119insGT

c.352_356ins6

1 paper

NM_004046.6

p.V117_V118delFs

c.349_352del4

1 paper

NM_004046.6

p.T134A

c.400A>G

1 paper

NM_004046.6

p.V142I

c.424G>A

1 paper

NM_004046.6

p.K161_G162Splc

c.484-1G>T

1 paper

NM_004046.6

p.I164V

c.490A>G

2 papers

NM_004046.6

p.G165D

c.494G>A

1 paper

NM_004046.6

p.R171*

c.511C>T