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

1–12 of 178 variants

8 papers

NM_001690.4

p.D100Y

c.298G>T

8 papers

NM_001690.4

p.D349N

c.1045G>A

6 papers

NM_001690.4

p.P27R

c.80C>G

6 papers

NM_001690.4

p.D371G

c.1112A>G

6 papers

NM_001690.4

p.R552P

c.1655G>C

4 papers

NM_001690.4

p.G72D

c.215G>A

4 papers

NM_001690.4

p.P249R

c.746C>G

4 papers

NM_001690.4

p.C254Y

c.761G>A

4 papers

NM_001690.4

p.G276R

c.826G>A

4 papers

NM_001690.4

p.G276R

c.826G>C

4 papers

NM_001690.4

p.R323G

c.967A>G

4 papers

NM_001690.4

p.R381P

c.1142G>C