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.R381*

c.1141A>T

Surrounding Variants

1 paper

NM_001693.4

p.R381delFs

c.1141delA

1 paper

NM_001693.4

p.R381K

c.1142G>A

1 paper

NM_001693.4

p.R381S

c.1143A>C

1 paper

NM_001693.4

p.R381S

c.1143A>T

1 paper

NM_001693.4

p.Q382*

c.1144C>T

1 paper

NM_001693.4

p.I377I

c.1131C>A

1 paper

NM_001693.4

p.Q376R

c.1127A>G

1 paper

NM_001693.4

p.Q376K

c.1126C>A

4 papers

NM_001693.4

p.E374G

c.1121A>G

1 paper

NM_001693.4

p.E374K

c.1120G>A

11 papers

NM_001693.4

p.E374Q

c.1120G>C

1 paper

NM_001693.4

p.Y371*

c.1113C>A