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

1–12 of 87 variants

5 papers

NM_001686.4

p.L335P

c.1004T>C

5 papers

NM_001686.4

p.V482A

c.1445T>C

4 papers

NM_001686.4

p.T334P

c.1000A>C

4 papers

NM_001686.4

p.I513T

c.1538T>C

2 papers

NM_001686.4

p.R62H

c.185G>A

2 papers

NM_001686.4

p.E181Q

c.541G>C

2 papers

NM_001686.4

p.E252K

c.754G>A

2 papers

NM_001686.4

p.N257S

c.770A>G

2 papers

NM_001686.4

p.E344Q

c.1030G>C

2 papers

NM_001686.4

p.S455F

c.1364C>T

2 papers

NM_001686.4

p.Q466E

c.1396C>G

1 paper

NM_001686.4

p.M1V

c.1A>G