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.A335_R338delFs

c.1005_1014del10

Surrounding Variants

1 paper

NM_005026.5

p.A335G

c.1004C>G

1 paper

NM_005026.5

p.A335A

c.1005C>A

1 paper

NM_005026.5

p.A335_D336insFs

c.1005_1006ins7

1 paper

NM_005026.5

p.A335Fs

c.1003delinsGAFs

46 papers

NM_005026.5

p.N334K

c.1002C>A

45 papers

NM_005026.5

p.N334K

c.1002C>G

2 papers

NM_005026.5

p.D336N

c.1006G>A

1 paper

NM_005026.5

p.N334S

c.1001A>G

1 paper

NM_005026.5

p.R338Q

c.1013G>A

1 paper

NM_005026.5

p.M339K

c.1016T>A

1 paper

NM_005026.5

p.K340_L341Splc

c.1020+2T>C

1 paper

NM_005026.5

p.E326K

c.976G>A