Varaico: Literature-Extracted Genetic Variants

ATP5F1A

144 papers

RefSeq Summary

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative p...

Pfam Domains

ATP-synt_ab_Naa 67–135UCSCATP synthase alpha/beta family, beta-barrel domain

ATP-synt_abaa 192–415UCSCATP synthase alpha/beta family, nucleotide-binding domain

ATP-synt_ab_Caa 422–547UCSCATP synthase alpha/beta chain, C terminal domain

Gene Aliases

HGNC Name

ATP synthase F1 subunit alpha

HGNC Previous Symbols

ATP5AL2; ATPM; ATP5A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_004046.6

p.Y321C

c.962A>G

Surrounding Variants

10 papers

NM_004046.6

p.R329C

c.985C>T

2 papers

NM_004046.6

p.P331L

c.992C>T

1 paper

NM_004046.6

p.P331P

c.993C>T

1 paper

NM_004046.6

p.R334C

c.1000C>T

1 paper

NM_004046.6

p.G339S

c.1015G>A

5 papers

NM_004046.6

p.S346F

c.1037C>T

1 paper

NM_004046.6

p.L349_A352del4

c.1045_1055del12

1 paper

NM_004046.6

p.K354E

c.1060A>G

1 paper

NM_004046.6

p.I370I

c.1110A>C

1 paper

NM_004046.6

p.G304D

c.911G>A

1 paper

NM_004046.6

p.G304S

c.910G>A

1 paper

NM_004046.6

p.R301K

c.902G>A