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.N40insFs

c.118_119insGT

Surrounding Variants

1 paper

NM_004046.6

p.A38T

c.112G>A

1 paper

NM_004046.6

p.L43delFs

c.127delG

1 paper

NM_004046.6

p.N35S

c.104A>G

1 paper

NM_004046.6

p.R34S

c.102G>C

1 paper

NM_004046.6

p.T46I

c.137C>T

1 paper

NM_004046.6

p.T46N

c.137C>A

1 paper

NM_004046.6

p.A33T

c.97G>A

3 papers

NM_004046.6

p.A32S

c.94G>T

1 paper

NM_004046.6

p.G47Splc

c.140-1327T>G

1 paper

NM_004046.6

p.L20Q

c.59T>A

1 paper

NM_004046.6

p.G19E

c.56G>A

1 paper

NM_004046.6

p.V10M

c.28G>A