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

1 paper

NM_004046.6

p.Y440C

c.1319A>G

Surrounding Variants

1 paper

NM_004046.6

p.G450delFs

c.1348_1349delCC

1 paper

NM_004046.6

p.L453delFs

c.1358delA

1 paper

NM_004046.6

p.D454N

c.1360G>A

2 papers

NM_004046.6

p.T468delFs

c.1404delA

3 papers

NM_004046.6

p.E469fs

c.1405_1406fs

1 paper

NM_004046.6

p.Q473*

c.1417C>T

2 papers

NM_004046.6

p.G418R

c.1252G>C

2 papers

NM_004046.6

p.G418R

c.1252G>A

1 paper

NM_004046.6

p.R405H

c.1214G>A

1 paper

NM_004046.6

p.Q392_I393Splc

c.1176+56A>G

1 paper

NM_004046.6

p.D390G

c.1169A>G

1 paper

NM_004046.6

p.I370I

c.1110A>C