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

2 papers

NM_015040.4

p.R1038R

c.3114A>G

Surrounding Variants

6 papers

NM_015040.4

p.R1038*

c.3112C>T

1 paper

NM_015040.4

p.T1040T

c.3120T>G

1 paper

NM_015040.4

p.Y1041S

c.3122A>C

2 papers

NM_015040.4

p.E1035V

c.3104A>T

1 paper

NM_015040.4

p.S1033_S1034ins1

c.3099_3100insTTA

5 papers

NM_015040.4

p.S1033A

c.3097T>G

1 paper

NM_015040.4

p.T1032insFs

c.3095_3096ins4

1 paper

NM_015040.4

p.E1030E

c.3090A>G

6 papers

NM_015040.4

p.E1030*

c.3088G>T

1 paper

NM_015040.4

p.E1048E

c.3144A>G

3 papers

NM_015040.4

p.K1050insFs

c.3150dupA

3 papers

NM_015040.4

p.D1051fs

c.3151_3152fs