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.N1037del1

c.3109_3110delAAC

Surrounding Variants

1 paper

NM_005026.5

p.T1029A

c.3085A>G

1 paper

NM_005026.5

p.Q1044R

c.3131A>G

1 paper

NM_005026.5

p.S1026G

c.3076A>G

20 papers

NM_005026.5

p.E1025G

c.3074A>G

217 papers

NM_005026.5

p.E1021K

c.3061G>A

1 paper

NM_005026.5

p.L1012M

c.3034C>A

2 papers

NM_005026.5

p.E1010A

c.3029A>C

1 paper

NM_005026.5

p.E1010K

c.3028G>A

1 paper

NM_005026.5

p.E1008K

c.3022G>A

1 paper

NM_005026.5

p.T1007_E1008del1

c.3021_3023delAGA

1 paper

NM_005026.5

p.G1005_K1006ins7

c.3013_3017ins21

1 paper

NM_005026.5

p.G1005_H1014del10

c.3013_3041del30