Varaico: Literature-Extracted Genetic Variants

PIKFYVE

236 papers

RefSeq Summary

Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membran...

Pfam Domains

FYVEaa 154–219UCSCFYVE zinc finger

DEPaa 368–438UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

Cpn60_TCP1aa 591–864UCSCTCP-1/cpn60 chaperonin family

PIP5Kaa 1849–2031UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphoinositide kinase, FYVE-type zinc finger containing

HGNC Previous Symbol

PIP5K3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015040.4

p.S305*

c.914C>G

Surrounding Variants

1 paper

NM_015040.4

p.S305*

c.914C>A

1 paper

NM_015040.4

p.N310T

c.929A>C

1 paper

NM_015040.4

p.G317D

c.950G>A

9 papers

NM_015040.4

p.S318A

c.952T>G

1 paper

NM_015040.4

p.P322H

c.965C>A

1 paper

NM_015040.4

p.Y324C

c.971A>G

1 paper

NM_015040.4

p.Q331K

c.991C>A

1 paper

NM_015040.4

p.T341P

c.1021A>C

1 paper

NM_015040.4

p.R346C

c.1036C>T

1 paper

NM_015040.4

p.L350_D351Splc

c.1051-4G>T

2 papers

NM_015040.4

p.K356I

c.1067A>T

1 paper

NM_015040.4

p.D357A

c.1070A>C