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

3 papers

NM_015040.4

p.E820Splc

c.2459-1G>C

Surrounding Variants

1 paper

NM_015040.4

p.E820Splc

c.2459-10T>C

2 papers

NM_015040.4

p.G830S

c.2488G>A

1 paper

NM_015040.4

p.S845F

c.2534C>T

6 papers

NM_015040.4

p.R851*

c.2551C>T

1 paper

NM_015040.4

p.K853_E854del2

c.2557_2561del6

1 paper

NM_015040.4

p.E854E

c.2562G>A

2 papers

NM_015040.4

p.S866F

c.2597C>T

1 paper

NM_015040.4

p.A878V

c.2633C>T

1 paper

NM_015040.4

p.M884I

c.2652G>A

1 paper

NM_015040.4

p.M884I

c.2652G>C

1 paper

NM_015040.4

p.M884I

c.2652G>T

1 paper

NM_015040.4

p.L892Q

c.2675T>A