Varaico: Literature-Extracted Genetic Variants

ATP5F1B

98 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_ab_Naa 63–129UCSCATP synthase alpha/beta family, beta-barrel domain

ATP-synt_abaa 186–405UCSCATP synthase alpha/beta family, nucleotide-binding domain

ATP-synt_VA_Caa 407–502UCSCC-terminal domain of V and A type ATP synthase

Gene Aliases

HGNC Name

ATP synthase F1 subunit beta

HGNC Previous Symbols

ATPSB; ATP5B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001686.4

p.A56A

c.168A>G

Surrounding Variants

2 papers

NM_001686.4

p.R62H

c.185G>A

1 paper

NM_001686.4

p.A47delFs

c.141delC

1 paper

NM_001686.4

p.R44G

c.130A>G

1 paper

NM_001686.4

p.P80S

c.238C>T

1 paper

NM_001686.4

p.L83R

c.248T>G

1 paper

NM_001686.4

p.T93S

c.277A>T

1 paper

NM_001686.4

p.T93S

c.278C>G

1 paper

NM_001686.4

p.E105fs

c.313_314fs

1 paper

NM_001686.4

p.S106R

c.318C>G

1 paper

NM_001686.4

p.I111V

c.331A>G

1 paper

NM_001686.4

p.G118_L119insGT

c.352_356ins6

1 paper

NM_001686.4

p.V125I

c.373G>A