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

4 papers

NM_018052.5

p.A582T

c.1744G>A

Surrounding Variants

7 papers

NM_018052.5

p.A582S

c.1744G>T

6 papers

NM_018052.5

p.S583L

c.1748C>T

1 paper

NM_018052.5

p.M585V

c.1753A>G

1 paper

NM_018052.5

p.D571H

c.1711G>C

1 paper

NM_018052.5

p.T595I

c.1784C>T

7 papers

NM_018052.5

p.A562V

c.1685C>T

1 paper

NM_018052.5

p.L560R

c.1679T>G

1 paper

NM_018052.5

p.R554Splc

c.1662-23A>G

1 paper

NM_018052.5

p.S614N

c.1841G>A

1 paper

NM_018052.5

p.C619Y

c.1856G>A

2 papers

NM_018052.5

p.R623H

c.1868G>A

4 papers

NM_018052.5

p.T632M

c.1895C>T