Varaico: Literature-Extracted Genetic Variants

ATP6V1A

120 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is nec...

Pfam Domains

ATP-synt_ab_Naa 21–83UCSCATP synthase alpha/beta family, beta-barrel domain

ATP-synt_ab_Xtnaa 124–212UCSCATPsynthase alpha/beta subunit barrel-sandwich domain

ATP-synt_abaa 230–455UCSCATP synthase alpha/beta family, nucleotide-binding domain

ATP-synt_VA_Caa 461–565UCSCC-terminal domain of V and A type ATP synthase

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit A

HGNC Previous Symbols

VPP2; ATP6A1; ATP6V1A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001690.4

p.V21M

c.61G>A

Surrounding Variants

1 paper

NM_001690.4

p.S25A

c.73T>G

1 paper

NM_001690.4

p.G26_P27insFs

c.78_79insC

6 papers

NM_001690.4

p.P27R

c.80C>G

1 paper

NM_001690.4

p.V28M

c.82G>A

1 paper

NM_001690.4

p.D11N

c.31G>A

1 paper

NM_001690.4

p.L6insFs

c.16_17dupCT

1 paper

NM_001690.4

p.S4Fs

c.11delinsGCCCAFs

1 paper

NM_001690.4

p.M1I

c.3G>C

1 paper

NM_001690.4

p.D2_F3del2

c.4_8del6

2 papers

NM_001690.4

p.M1K

c.2T>A

1 paper

NM_001690.4

p.M1insFs

c.2dupT

1 paper

NM_001690.4

p.M1L

c.1A>T