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.P12A

c.34C>G

Surrounding Variants

1 paper

NM_001686.4

p.P12L

c.35C>T

1 paper

NM_001686.4

p.P12R

c.35C>G

1 paper

NM_001686.4

p.A11V

c.32C>T

1 paper

NM_001686.4

p.V8M

c.22G>A

1 paper

NM_001686.4

p.G6S

c.16G>A

1 paper

NM_001686.4

p.F4L

c.12T>A

1 paper

NM_001686.4

p.F4C

c.11T>G

1 paper

NM_001686.4

p.L20H

c.59T>A

1 paper

NM_001686.4

p.M1T

c.2T>C

1 paper

NM_001686.4

p.M1V

c.1A>G

1 paper

NM_001686.4

p.S23L

c.68C>T

1 paper

NM_001686.4

p.S25P

c.73T>C