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

1–12 of 635 variants

217 papers

NM_005026.5

p.E1021K

c.3061G>A

57 papers

NM_005026.5

p.E525K

c.1573G>A

46 papers

NM_005026.5

p.N334K

c.1002C>A

45 papers

NM_005026.5

p.N334K

c.1002C>G

43 papers

NM_005026.5

p.C416R

c.1246T>C

29 papers

NM_005026.5

p.E81K

c.241G>A

25 papers

NM_005026.5

p.G124D

c.371G>A

23 papers

NM_005026.5

p.E525A

c.1574A>C

20 papers

NM_005026.5

p.E1025G

c.3074A>G

17 papers

NM_005026.5

p.R405C

c.1213C>T

17 papers

NM_005026.5

p.R929C

c.2785C>T

15 papers

NM_005026.5

p.E525G

c.1574A>G