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

6 papers

NM_015040.4

p.K700delFs

c.2098delA

Surrounding Variants

3 papers

NM_015040.4

p.N701fs

c.2101_2102fs

3 papers

NM_015040.4

p.P702P

c.2106C>T

7 papers

NM_015040.4

p.S696N

c.2087G>A

5 papers

NM_015040.4

p.L706delFs

c.2116_2117delCT

3 papers

NM_015040.4

p.L706fs

c.2116_2117fs

1 paper

NM_015040.4

p.T719delFs

c.2155_2156delAC

1 paper

NM_015040.4

p.T719fs

c.2155_2156fs

1 paper

NM_015040.4

p.K720K

c.2160G>A

1 paper

NM_015040.4

p.T722A

c.2164A>G

2 papers

NM_015040.4

p.I727I

c.2181T>C

1 paper

NM_015040.4

p.V728V

c.2184G>A

1 paper

NM_015040.4

p.L729fs

c.2185_2186fs