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

3 papers

NM_001690.4

p.K139R

c.416A>G

Surrounding Variants

1 paper

NM_001690.4

p.K139insFs

c.415dupA

1 paper

NM_001690.4

p.C138fs

c.412_413fs

1 paper

NM_001690.4

p.R142L

c.425G>T

1 paper

NM_001690.4

p.W133insFs

c.397_398ins8

1 paper

NM_001690.4

p.K132R

c.395A>G

1 paper

NM_001690.4

p.D130Y

c.388G>T

1 paper

NM_001690.4

p.V124M

c.370G>A

1 paper

NM_001690.4

p.P119P

c.357C>A

1 paper

NM_001690.4

p.P119L

c.356C>T

1 paper

NM_001690.4

p.I118delFs

c.353_354delTC

1 paper

NM_001690.4

p.S110R

c.330C>A

2 papers

NM_001690.4

p.L106S

c.317T>C