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.D245G

c.734A>G

Surrounding Variants

1 paper

NM_001686.4

p.E238insFs

c.713dupA

2 papers

NM_001686.4

p.E252K

c.754G>A

2 papers

NM_001686.4

p.N257S

c.770A>G

1 paper

NM_001686.4

p.A261V

c.782C>T

1 paper

NM_001686.4

p.I216T

c.647T>C

1 paper

NM_001686.4

p.L204fs

c.610_611fs

1 paper

NM_001686.4

p.G203_L204insKIG

c.607_611ins9

2 papers

NM_001686.4

p.E181Q

c.541G>C

1 paper

NM_001686.4

p.M176I

c.528G>T

1 paper

NM_001686.4

p.M176I

c.528G>C

1 paper

NM_001686.4

p.M176I

c.528G>A

1 paper

NM_001686.4

p.E175_M176delFs

c.525_526delTT