Varaico: Literature-Extracted Genetic Variants

ATP6V1B1

272 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 44–110UCSCATP synthase alpha/beta family, beta-barrel domain

ATP-synt_abaa 167–393UCSCATP synthase alpha/beta family, nucleotide-binding domain

ATP-synt_VA_Caa 398–498UCSCC-terminal domain of V and A type ATP synthase

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit B1

HGNC Previous Symbols

VPP3; ATP6B1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001692.4

p.Y383fs

c.1147_1148fs

Surrounding Variants

1 paper

NM_001692.4

p.Y383delFs

c.1148delA

29 papers

NM_001692.4

p.P385insFs

c.1155dupC

4 papers

NM_001692.4

p.P384delFs

c.1152delC

1 paper

NM_001692.4

p.P384S

c.1150C>T

1 paper

NM_001692.4

p.P385T

c.1153C>A

5 papers

NM_001692.4

p.I386insFs

c.1156_1157insC

2 papers

NM_001692.4

p.I386fs

c.1156_1157fs

17 papers

NM_001692.4

p.I386fs

c.1156_1157fs

2 papers

NM_001692.4

p.I386_N387insFs

c.1158_1159insC

1 paper

NM_001692.4

p.N387K

c.1161C>A

1 paper

NM_001692.4

p.N387K

c.1161C>G

1 paper

NM_001692.4

p.L389F

c.1165C>T