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

Selected Variant

1 paper

NM_001693.4

p.M1insFs

c.2dupT

Surrounding Variants

1 paper

NM_001693.4

p.M1R

c.2T>G

1 paper

NM_001693.4

p.M1I

c.3G>A

1 paper

NM_001693.4

p.M1I

c.3G>C

1 paper

NM_001693.4

p.M1I

c.3G>T

1 paper

NM_001693.4

p.L3M

c.7C>A

1 paper

NM_001693.4

p.R4insFs

c.10_11ins4

1 paper

NM_001693.4

p.R4R

c.12G>C

1 paper

NM_001693.4

p.R7W

c.19C>T

1 paper

NM_001693.4

p.P15S

c.43C>T

1 paper

NM_001693.4

p.L17V

c.49C>G

1 paper

NM_001693.4

p.G22V

c.65G>T

1 paper

NM_001693.4

p.V35L

c.103G>C