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

5 papers

NM_018052.5

p.G510Splc

c.1528+1G>A

Surrounding Variants

1 paper

NM_018052.5

p.D484N

c.1450G>A

1 paper

NM_018052.5

p.L483P

c.1448T>C

1 paper

NM_018052.5

p.P473P

c.1419C>T

2 papers

NM_018052.5

p.I459fs

c.1375_1376fs