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.E127*

c.379G>T

Surrounding Variants

5 papers

NM_005026.5

p.G124D

c.371G>A

1 paper

NM_005026.5

p.G124Splc

c.371-3C>T

3 papers

NM_005026.5

p.D133E

c.399C>A

3 papers

NM_005026.5

p.D133E

c.399C>G

2 papers

NM_005026.5

p.P134L

c.401C>T

1 paper

NM_005026.5

p.E135K

c.403G>A

1 paper

NM_005026.5

p.V136L

c.406G>C

1 paper

NM_005026.5

p.V136L

c.406G>T

1 paper

NM_005026.5

p.D138N

c.412G>A

1 paper

NM_005026.5

p.D138E

c.414C>A

1 paper

NM_005026.5

p.D138E

c.414C>G

1 paper

NM_005026.5

p.R140C

c.418C>T