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.M145L

c.433A>T

Surrounding Variants

1 paper

NM_001686.4

p.M145L

c.433A>C

1 paper

NM_001686.4

p.N146D

c.436A>G

1 paper

NM_001686.4

p.I152V

c.454A>G

1 paper

NM_001686.4

p.V136V

c.408T>A

1 paper

NM_001686.4

p.E154K

c.460G>A

1 paper

NM_001686.4

p.Q162_F163ins13

c.484_488ins39

1 paper

NM_001686.4

p.V125I

c.373G>A

1 paper

NM_001686.4

p.G118_L119insGT

c.352_356ins6

1 paper

NM_001686.4

p.I111V

c.331A>G

1 paper

NM_001686.4

p.S106R

c.318C>G

1 paper

NM_001686.4

p.E105fs

c.313_314fs

1 paper

NM_001686.4

p.T93S

c.278C>G