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

4 papers

NM_015040.4

p.N1188N

c.3564T>C

Surrounding Variants

1 paper

NM_015040.4

p.G1185E

c.3554G>A

1 paper

NM_015040.4

p.G1185R

c.3553G>A

1 paper

NM_015040.4

p.G1185R

c.3553G>C

6 papers

NM_015040.4

p.Q1183K

c.3547C>A

1 paper

NM_015040.4

p.S1178N

c.3533G>A

1 paper

NM_015040.4

p.A1176E

c.3527C>A

1 paper

NM_015040.4

p.Q1163Q

c.3489G>A

1 paper

NM_015040.4

p.D1154N

c.3460G>A

1 paper

NM_015040.4

p.S1147N

c.3440G>A

1 paper

NM_015040.4

p.D1144N

c.3430G>A

1 paper

NM_015040.4

p.R1137S

c.3411A>C

1 paper

NM_015040.4

p.R1137S

c.3411A>T