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.L119R

c.356T>G

Surrounding Variants

1 paper

NM_005026.5

p.I121F

c.361A>T

2 papers

NM_005026.5

p.G122S

c.364G>A

1 paper

NM_005026.5

p.G122A

c.365G>C

1 paper

NM_005026.5

p.Q116*

c.346C>T

25 papers

NM_005026.5

p.G124D

c.371G>A

1 paper

NM_005026.5

p.I113L

c.337A>C

1 paper

NM_005026.5

p.L112R

c.335T>G

1 paper

NM_005026.5

p.K111Q

c.331A>C

1 paper

NM_005026.5

p.K110N

c.330G>C

1 paper

NM_005026.5

p.K110N

c.330G>T

1 paper

NM_005026.5

p.K111del1

c.331_333delAAG

1 paper

NM_005026.5

p.V109M

c.325G>A