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.G47Splc

c.140-1327T>G

Surrounding Variants

1 paper

NM_004046.6

p.G47W

c.139G>T

1 paper

NM_004046.6

p.G47delFs

c.141delC

1 paper

NM_004046.6

p.A49V

c.146C>T

1 paper

NM_004046.6

p.S52P

c.154T>C

1 paper

NM_004046.6

p.R58H

c.173G>A

1 paper

NM_004046.6

p.E69K

c.205G>A

1 paper

NM_004046.6

p.L68_G72delFs

c.204_214del11

1 paper

NM_004046.6

p.V74A

c.221T>C

1 paper

NM_004046.6

p.V74_L75del1

c.222_224delAAG

1 paper

NM_004046.6

p.L75del1

c.223_224delTAA

1 paper

NM_004046.6

p.A82S

c.244G>T

1 paper

NM_004046.6

p.A82V

c.245C>T