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.V382V

c.1146C>T

Surrounding Variants

1 paper

NM_018052.5

p.G379S

c.1135G>A

1 paper

NM_018052.5

p.S387Splc

c.1161-3340T>G

5 papers

NM_018052.5

p.G366Splc

c.1096+1G>C

1 paper

NM_018052.5

p.S365R

c.1095T>G

1 paper

NM_018052.5

p.S365R

c.1095T>A

1 paper

NM_018052.5

p.S365N

c.1094G>A

1 paper

NM_018052.5

p.S365R

c.1093A>C

1 paper

NM_018052.5

p.P353S

c.1057C>T

1 paper

NM_018052.5

p.N322I

c.965A>T

1 paper

NM_018052.5

p.A391T

c.1171G>A

1 paper

NM_018052.5

p.A412A

c.1236C>T

12 papers

NM_018052.5

p.W424L

c.1271G>T