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

3 papers

NM_001693.4

p.G325R

c.973G>C

Surrounding Variants

1 paper

NM_001693.4

p.M327I

c.981G>A

1 paper

NM_001693.4

p.Y328H

c.982T>C

1 paper

NM_001693.4

p.Y328C

c.983A>G

1 paper

NM_001693.4

p.T329R

c.986C>G

1 paper

NM_001693.4

p.R320*

c.958C>T

1 paper

NM_001693.4

p.A332V

c.995C>T

4 papers

NM_001693.4

p.I334T

c.1001T>C

1 paper

NM_001693.4

p.Y335C

c.1004A>G

1 paper

NM_001693.4

p.R337C

c.1009C>T

1 paper

NM_001693.4

p.G343A

c.1028G>C

1 paper

NM_001693.4

p.P352A

c.1054C>G

1 paper

NM_001693.4

p.P352S

c.1054C>T