Varaico: Literature-Extracted Genetic Variants

ATP5F1D

27 papers

RefSeq Summary

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

Pfam Domains

ATP-synt_DE_Naa 38–119UCSCATP synthase, Delta/Epsilon chain, beta-sandwich domain

ATPD_C_metazoaaa 125–166UCSCMetazoan delta subunit of F1F0-ATP synthase, C-terminal domain

Gene Aliases

HGNC Name

ATP synthase F1 subunit delta

HGNC Previous Symbol

ATP5D

Papers

RefSeq ID

Protein change

DNA change

1–12 of 20 variants

6 papers

NM_001687.5

p.P82L

c.245C>T

6 papers

NM_001687.5

p.V106G

c.317T>G

1 paper

NM_001687.5

p.M1V

c.1A>G

1 paper

NM_001687.5

p.M1T

c.2T>C

1 paper

NM_001687.5

p.S33C

c.98C>G

1 paper

NM_001687.5

p.F40insFs

c.118_119insGT

1 paper

NM_001687.5

p.A43V

c.128C>T

1 paper

NM_001687.5

p.Q47delFs

c.141delG

1 paper

NM_001687.5

p.G65*

c.193G>T

1 paper

NM_001687.5

p.I69F

c.205A>T

1 paper

NM_001687.5

p.L80L

c.238C>T

1 paper

NM_001687.5

p.S100C

c.298A>T