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.E320D

c.960G>T

Surrounding Variants

1 paper

NM_005026.5

p.E320D

c.960G>C

1 paper

NM_005026.5

p.P322L

c.965C>T

1 paper

NM_005026.5

p.F323_L327delFs

c.967_979del13

2 papers

NM_005026.5

p.S318P

c.952T>C

1 paper

NM_005026.5

p.I325M

c.975C>G

1 paper

NM_005026.5

p.E326K

c.976G>A

1 paper

NM_005026.5

p.S312Y

c.935C>A

8 papers

NM_005026.5

p.S312C

c.935C>G

1 paper

NM_005026.5

p.P311L

c.932C>T

1 paper

NM_005026.5

p.K310_P311Splc

c.931-9G>C

1 paper

NM_005026.5

p.N334S

c.1001A>G

46 papers

NM_005026.5

p.N334K

c.1002C>A