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.E994K

c.2980G>A

Surrounding Variants

1 paper

NM_015040.4

p.S993S

c.2979C>T

1 paper

NM_015040.4

p.Q995K

c.2983C>A

6 papers

NM_015040.4

p.Q995L

c.2984A>T

1 paper

NM_015040.4

p.A990D

c.2969C>A

4 papers

NM_015040.4

p.T998S

c.2992A>T

5 papers

NM_015040.4

p.T998S

c.2993C>G

1 paper

NM_015040.4

p.D989D

c.2967T>C

1 paper

NM_015040.4

p.L999F

c.2997G>C

1 paper

NM_015040.4

p.L999F

c.2997G>T

6 papers

NM_015040.4

p.Q988*

c.2962C>T

1 paper

NM_015040.4

p.Q1000R

c.2999A>G

1 paper

NM_015040.4

p.V984A

c.2951T>C