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.R353insFs

c.1058_1059insC

Surrounding Variants

1 paper

NM_001690.4

p.R353_W354del2

c.1057_1061del6

1 paper

NM_001690.4

p.W354L

c.1061G>T

1 paper

NM_001690.4

p.E356V

c.1067A>T

3 papers

NM_001690.4

p.E356D

c.1068G>C

3 papers

NM_001690.4

p.E356D

c.1068G>T

1 paper

NM_001690.4

p.D349G

c.1046A>G

8 papers

NM_001690.4

p.D349N

c.1045G>A

3 papers

NM_001690.4

p.R359G

c.1075A>G

1 paper

NM_001690.4

p.E360K

c.1078G>A

1 paper

NM_001690.4

p.M346T

c.1037T>C

1 paper

NM_001690.4

p.V344F

c.1030G>T

2 papers

NM_001690.4

p.G363V

c.1088G>T