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.V404L

c.1210G>C

Surrounding Variants

1 paper

NM_001690.4

p.S403S

c.1209T>C

1 paper

NM_001690.4

p.G402G

c.1206G>C

1 paper

NM_001690.4

p.N397_P398ins8

c.1189_1193ins24

1 paper

NM_001690.4

p.K393R

c.1178A>G

1 paper

NM_001690.4

p.F385L

c.1155T>A

1 paper

NM_001690.4

p.F385L

c.1155T>G

1 paper

NM_001690.4

p.F385L

c.1153T>C

4 papers

NM_001690.4

p.R381P

c.1142G>C

1 paper

NM_001690.4

p.A380T

c.1138G>A

2 papers

NM_001690.4

p.L378F

c.1132C>T

3 papers

NM_001690.4

p.P375T

c.1123C>A

3 papers

NM_001690.4

p.D371G

c.1112A>G