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.E899E

c.2697G>A

Surrounding Variants

1 paper

NM_015040.4

p.R896R

c.2686C>A

1 paper

NM_015040.4

p.Q905*

c.2713C>T

1 paper

NM_015040.4

p.L892Q

c.2675T>A

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.A878V

c.2633C>T

1 paper

NM_015040.4

p.C924Y

c.2771G>A

6 papers

NM_015040.4

p.L932S

c.2795T>C

2 papers

NM_015040.4

p.S866F

c.2597C>T

1 paper

NM_015040.4

p.V935V

c.2805G>A

1 paper

NM_015040.4

p.E940D

c.2820G>T