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.E940D

c.2820G>T

Surrounding Variants

1 paper

NM_015040.4

p.V935V

c.2805G>A

1 paper

NM_015040.4

p.L946I

c.2836C>A

2 papers

NM_015040.4

p.P947L

c.2840C>T

1 paper

NM_015040.4

p.Q948R

c.2843A>G

6 papers

NM_015040.4

p.L932S

c.2795T>C

1 paper

NM_015040.4

p.A951G

c.2852C>G

1 paper

NM_015040.4

p.A951V

c.2852C>T

1 paper

NM_015040.4

p.H955L

c.2864A>T

1 paper

NM_015040.4

p.Q956Q

c.2868A>G

1 paper

NM_015040.4

p.C924Y

c.2771G>A

1 paper

NM_015040.4

p.H958Y

c.2872C>T

1 paper

NM_015040.4

p.T961A

c.2881A>G