Varaico: Literature-Extracted Genetic Variants

VAC14

86 papers

RefSeq Summary

This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important com...

Pfam Domains

Vac14_Fab1_bdaa 67–163UCSCVacuolar 14 Fab1-binding region

Vac14_Fig4_bdaa 542–720UCSCVacuolar protein 14 C-terminal Fig4p binding

Gene Aliases

HGNC Name

VAC14 component of PIKFYVE complex

HGNC Previous Symbol

TAX1BP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018052.5

p.S168R

c.504C>A

Surrounding Variants

1 paper

NM_018052.5

p.S168R

c.504C>G

1 paper

NM_018052.5

p.N169T

c.506A>C

1 paper

NM_018052.5

p.S168R

c.502A>C

1 paper

NM_018052.5

p.R181Q

c.542G>A

11 papers

NM_018052.5

p.L156R

c.467T>G

1 paper

NM_018052.5

p.L156I

c.466C>A

1 paper

NM_018052.5

p.P148P

c.444C>T

1 paper

NM_018052.5

p.G241A

c.722G>C

1 paper

NM_018052.5

p.S253N

c.758G>A

2 papers

NM_018052.5

p.A127S

c.379G>T

1 paper

NM_018052.5

p.I120V

c.358A>G

1 paper

NM_018052.5

p.E115K

c.343G>A