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

1–12 of 494 variants

9 papers

NM_015040.4

p.S318A

c.952T>G

7 papers

NM_015040.4

p.S696N

c.2087G>A

6 papers

NM_015040.4

p.K700delFs

c.2098delA

6 papers

NM_015040.4

p.R851*

c.2551C>T

6 papers

NM_015040.4

p.L932S

c.2795T>C

6 papers

NM_015040.4

p.Q988*

c.2962C>T

6 papers

NM_015040.4

p.Q995L

c.2984A>T

6 papers

NM_015040.4

p.E1030*

c.3088G>T

6 papers

NM_015040.4

p.R1038*

c.3112C>T

6 papers

NM_015040.4

p.K1103R

c.3308A>G

6 papers

NM_015040.4

p.Q1183K

c.3547C>A

5 papers

NM_015040.4

p.L706delFs

c.2116_2117delCT