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.N918K

c.2754T>G

Surrounding Variants

1 paper

NM_005026.5

p.N918K

c.2754T>A

1 paper

NM_005026.5

p.F919L

c.2755T>C

1 paper

NM_005026.5

p.N918fs

c.2752_2753fs

1 paper

NM_005026.5

p.F919L

c.2757C>A

1 paper

NM_005026.5

p.F919L

c.2757C>G

1 paper

NM_005026.5

p.K920N

c.2760G>C

1 paper

NM_005026.5

p.K920N

c.2760G>T

1 paper

NM_005026.5

p.L916fs

c.2746_2747fs

1 paper

NM_005026.5

p.T921T

c.2763C>T

1 paper

NM_005026.5

p.K922_F923del2

c.2764_2768del6

1 paper

NM_005026.5

p.K922_F923del1

c.2766_2768delGTT

3 papers

NM_005026.5

p.D911E

c.2733T>A