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.Q718Q

c.2154G>A

Surrounding Variants

1 paper

NM_018052.5

p.P705P

c.2115G>T

5 papers

NM_018052.5

p.R681H

c.2042G>A

1 paper

NM_018052.5

p.Y679Splc

c.2035+636C>G

6 papers

NM_018052.5

p.V669L

c.2005G>T

6 papers

NM_018052.5

p.V669L

c.2005G>C

1 paper

NM_018052.5

p.V669M

c.2005G>A

1 paper

NM_018052.5

p.L662R

c.1985T>G

1 paper

NM_018052.5

p.E729Splc

c.2187-909A>G

2 papers

NM_018052.5

p.K651E

c.1951A>G

2 papers

NM_018052.5

p.L648F

c.1942C>T

1 paper

NM_018052.5

p.A645T

c.1933G>A

5 papers

NM_018052.5

p.R643W

c.1927C>T