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

1–12 of 95 variants

10 papers

NM_004046.6

p.R329C

c.985C>T

7 papers

NM_004046.6

p.R207H

c.620G>A

7 papers

NM_004046.6

p.Y321C

c.962A>G

5 papers

NM_004046.6

p.R182Q

c.545G>A

5 papers

NM_004046.6

p.S346F

c.1037C>T

3 papers

NM_004046.6

p.A32S

c.94G>T

3 papers

NM_004046.6

p.E469fs

c.1405_1406fs

2 papers

NM_004046.6

p.M1V

c.1A>G

2 papers

NM_004046.6

p.S3P

c.7T>C

2 papers

NM_004046.6

p.N40insFs

c.118_119insGT

2 papers

NM_004046.6

p.L109S

c.326T>C

2 papers

NM_004046.6

p.V118_F119insGT

c.352_356ins6