Varaico: Literature-Extracted Genetic Variants

ATP6V1B2

123 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 50–116UCSCATP synthase alpha/beta family, beta-barrel domain

ATP-synt_abaa 173–399UCSCATP synthase alpha/beta family, nucleotide-binding domain

ATP-synt_VA_Caa 404–504UCSCC-terminal domain of V and A type ATP synthase

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit B2

HGNC Previous Symbols

VPP3; ATP6B2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 112 variants

26 papers

NM_001693.4

p.R506*

c.1516C>T

16 papers

NM_001693.4

p.R485P

c.1454G>C

14 papers

NM_001693.4

p.R400Q

c.1199G>A

11 papers

NM_001693.4

p.E374Q

c.1120G>C

9 papers

NM_001693.4

p.L398V

c.1192C>G

6 papers

NM_001693.4

p.K489*

c.1465A>T

4 papers

NM_001693.4

p.I334T

c.1001T>C

4 papers

NM_001693.4

p.Y371C

c.1112A>G

4 papers

NM_001693.4

p.E374G

c.1121A>G

3 papers

NM_001693.4

p.G325R

c.973G>C

3 papers

NM_001693.4

p.A424V

c.1271C>T

2 papers

NM_001693.4

p.L40F

c.118C>T