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.R422C

c.1264C>T

Surrounding Variants

1 paper

NM_001686.4

p.K426Q

c.1276A>C

1 paper

NM_001686.4

p.N411Y

c.1231A>T

1 paper

NM_001686.4

p.I407S

c.1220T>G

1 paper

NM_001686.4

p.T375A

c.1123A>G

1 paper

NM_001686.4

p.T374T

c.1122T>G

1 paper

NM_001686.4

p.E445Q

c.1333G>C

1 paper

NM_001686.4

p.E448K

c.1342G>A

2 papers

NM_001686.4

p.S455F

c.1364C>T

2 papers

NM_001686.4

p.Q466E

c.1396C>G

5 papers

NM_001686.4

p.V482A

c.1445T>C

1 paper

NM_001686.4

p.K489*

c.1465A>T

1 paper

NM_001686.4

p.H501H

c.1503T>C