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.D1079G

c.3236A>G

Surrounding Variants

3 papers

NM_015040.4

p.R1078P

c.3233G>C

1 paper

NM_015040.4

p.Q1084H

c.3252G>C

1 paper

NM_015040.4

p.Q1084H

c.3252G>T

1 paper

NM_015040.4

p.Y1086C

c.3257A>G

1 paper

NM_015040.4

p.K1071K

c.3213G>A

1 paper

NM_015040.4

p.L1090F

c.3268C>T

2 papers

NM_015040.4

p.L1090L

c.3270C>T

1 paper

NM_015040.4

p.R1063Q

c.3188G>A

1 paper

NM_015040.4

p.M1098V

c.3292A>G

1 paper

NM_015040.4

p.R1102M

c.3305G>T

1 paper

NM_015040.4

p.I1056V

c.3166A>G

2 papers

NM_015040.4

p.K1103E

c.3307A>G