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.D357A

c.1070A>C

Surrounding Variants

2 papers

NM_015040.4

p.K356I

c.1067A>T

1 paper

NM_015040.4

p.I362M

c.1086C>G

1 paper

NM_015040.4

p.L350_D351Splc

c.1051-4G>T

1 paper

NM_015040.4

p.Q372K

c.1114C>A

1 paper

NM_015040.4

p.R375C

c.1123C>T

1 paper

NM_015040.4

p.Y376C

c.1127A>G

1 paper

NM_015040.4

p.H399R

c.1196A>G

2 papers

NM_015040.4

p.A406S

c.1216G>T

1 paper

NM_015040.4

p.A412T

c.1234G>A

2 papers

NM_015040.4

p.A412V

c.1235C>T

1 paper

NM_015040.4

p.D415N

c.1243G>A

2 papers

NM_015040.4

p.R417H

c.1250G>A