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.E441A

c.1322A>C

Surrounding Variants

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

1 paper

NM_001693.4

p.D417N

c.1249G>A

1 paper

NM_001693.4

p.D414V

c.1241A>T

1 paper

NM_001693.4

p.G409R

c.1225G>A

1 paper

NM_001693.4

p.G409R

c.1225G>C

14 papers

NM_001693.4

p.R400Q

c.1199G>A

1 paper

NM_001693.4

p.R400L

c.1199G>T

1 paper

NM_001693.4

p.R400W

c.1198C>T

1 paper

NM_001693.4

p.L398P

c.1193T>C

9 papers

NM_001693.4

p.L398V

c.1192C>G