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

1–12 of 72 variants

12 papers

NM_018052.5

p.W424L

c.1271G>T

11 papers

NM_018052.5

p.L156R

c.467T>G

7 papers

NM_018052.5

p.A562V

c.1685C>T

7 papers

NM_018052.5

p.A582S

c.1744G>T

6 papers

NM_018052.5

p.S583L

c.1748C>T

6 papers

NM_018052.5

p.V669L

c.2005G>T

6 papers

NM_018052.5

p.V669L

c.2005G>C

5 papers

NM_018052.5

p.G366Splc

c.1096+1G>C

5 papers

NM_018052.5

p.G510Splc

c.1528+1G>A

5 papers

NM_018052.5

p.R643W

c.1927C>T

5 papers

NM_018052.5

p.R681H

c.2042G>A

4 papers

NM_018052.5

p.L308*

c.923T>A