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.R310H

c.929G>A

Surrounding Variants

1 paper

NM_001686.4

p.Q313fs

c.937_938fs

1 paper

NM_001686.4

p.D306G

c.917A>G

1 paper

NM_001686.4

p.V301L

c.901G>T

1 paper

NM_001686.4

p.V301L

c.901G>C

1 paper

NM_001686.4

p.G298D

c.893G>A

1 paper

NM_001686.4

p.E291K

c.871G>A

1 paper

NM_001686.4

p.E274Q

c.820G>C

1 paper

NM_001686.4

p.V318E

c.953T>A

1 paper

NM_001686.4

p.V268A

c.803T>C

1 paper

NM_001686.4

p.Y331C

c.992A>G

1 paper

NM_001686.4

p.Q332*

c.994C>T

4 papers

NM_001686.4

p.T334P

c.1000A>C