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.T472P

c.1414A>C

Surrounding Variants

1 paper

NM_001693.4

p.E469K

c.1405G>A

1 paper

NM_001693.4

p.I479M

c.1437T>G

1 paper

NM_001693.4

p.R485Q

c.1454G>A

16 papers

NM_001693.4

p.R485P

c.1454G>C

1 paper

NM_001693.4

p.I486M

c.1458C>G

6 papers

NM_001693.4

p.K489*

c.1465A>T

26 papers

NM_001693.4

p.R506*

c.1516C>T

1 paper

NM_001693.4

p.H511Y

c.1531C>T

1 paper

NM_001693.4

p.E441A

c.1322A>C

2 papers

NM_001693.4

p.V439I

c.1315G>A

1 paper

NM_001693.4

p.Y426C

c.1277A>G

3 papers

NM_001693.4

p.A424V

c.1271C>T