Varaico: Literature-Extracted Genetic Variants

PIK3CD

622 papers

RefSeq Summary

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other c...

Pfam Domains

PI3K_p85Baa 32–107UCSCPI3-kinase family, p85-binding domain

PI3K_rbdaa 175–281UCSCPI3-kinase family, ras-binding domain

PI3K_C2aa 337–465UCSCPhosphoinositide 3-kinase C2

PI3Kaaa 499–684UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)

PI3_PI4_kinaseaa 773–991UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

HGNC Alias Symbol

p110D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005026.5

p.K433N

c.1299G>C

Surrounding Variants

1 paper

NM_005026.5

p.K433N

c.1299G>T

1 paper

NM_005026.5

p.K433T

c.1298A>C

1 paper

NM_005026.5

p.Q431R

c.1292A>G

1 paper

NM_005026.5

p.E436K

c.1306G>A

4 papers

NM_005026.5

p.R437C

c.1309C>T

2 papers

NM_005026.5

p.L439P

c.1316T>C

2 papers

NM_005026.5

p.Y440H

c.1318T>C

2 papers

NM_005026.5

p.Y440C

c.1319A>G

1 paper

NM_005026.5

p.F426L

c.1276T>C

3 papers

NM_005026.5

p.S444P

c.1330T>C

1 paper

NM_005026.5

p.L423I

c.1267C>A

2 papers

NM_005026.5

p.V445I

c.1333G>A