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.R518Q

c.1553G>A

Surrounding Variants

2 papers

NM_005026.5

p.R517Q

c.1550G>A

1 paper

NM_005026.5

p.R517W

c.1549C>T

4 papers

NM_005026.5

p.S520A

c.1558T>G

2 papers

NM_005026.5

p.E516K

c.1546G>A

1 paper

NM_005026.5

p.E516*

c.1546G>T

1 paper

NM_005026.5

p.G521E

c.1562G>A

1 paper

NM_005026.5

p.L523P

c.1568T>C

10 papers

NM_005026.5

p.Y524N

c.1570T>A

2 papers

NM_005026.5

p.Y524H

c.1570T>C

4 papers

NM_005026.5

p.Y524D

c.1570T>G

8 papers

NM_005026.5

p.Y524S

c.1571A>C

4 papers

NM_005026.5

p.Y524C

c.1571A>G