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

4 papers

NM_001690.4

p.R323G

c.967A>G

Surrounding Variants

1 paper

NM_001690.4

p.P319S

c.955C>T

1 paper

NM_001690.4

p.Y328H

c.982T>C

3 papers

NM_001690.4

p.S316F

c.947C>T

1 paper

NM_001690.4

p.T315I

c.944C>T

3 papers

NM_001690.4

p.N314S

c.941A>G

3 papers

NM_001690.4

p.N314D

c.940A>G

1 paper

NM_001690.4

p.V312L

c.934G>C

1 paper

NM_001690.4

p.V312L

c.934G>T

1 paper

NM_001690.4

p.P292S

c.874C>T

1 paper

NM_001690.4

p.D290N

c.868G>A

1 paper

NM_001690.4

p.N282I

c.845A>T

1 paper

NM_001690.4

p.G281R

c.841G>A