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.Q79P

c.236A>C

Surrounding Variants

1 paper

NM_005026.5

p.Q79R

c.236A>G

1 paper

NM_005026.5

p.Q79delFs

c.236_237delAG

1 paper

NM_005026.5

p.Q79fs

c.235_236fs

1 paper

NM_005026.5

p.Q79H

c.237G>C

1 paper

NM_005026.5

p.E78G

c.233A>G

1 paper

NM_005026.5

p.Q80R

c.239A>G

3 papers

NM_005026.5

p.E78K

c.232G>A

29 papers

NM_005026.5

p.E81K

c.241G>A

1 paper

NM_005026.5

p.L82L

c.244C>T

1 paper

NM_005026.5

p.T76I

c.227C>T

1 paper

NM_005026.5

p.E83G

c.248A>G

1 paper

NM_005026.5

p.N74S

c.221A>G