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.R571C

c.1711C>T

Surrounding Variants

1 paper

NM_001690.4

p.N563S

c.1688A>G

1 paper

NM_001690.4

p.Y579C

c.1736A>G

1 paper

NM_001690.4

p.D562N

c.1684G>A

1 paper

NM_001690.4

p.A559T

c.1675G>A

1 paper

NM_001690.4

p.A554D

c.1661C>A

1 paper

NM_001690.4

p.R553R

c.1659A>G

1 paper

NM_001690.4

p.R553K

c.1658G>A

6 papers

NM_001690.4

p.R552P

c.1655G>C

1 paper

NM_001690.4

p.R552fs

c.1654_1655fs

1 paper

NM_001690.4

p.A551T

c.1651G>A

1 paper

NM_001690.4

p.D549E

c.1647T>A

1 paper

NM_001690.4

p.D549E

c.1647T>G