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.H349H

c.1047C>T

Surrounding Variants

1 paper

NM_005026.5

p.G350_S359Fs

c.1048_1075delinsAAAAGAGTGFs

3 papers

NM_005026.5

p.L347V

c.1039C>G

1 paper

NM_005026.5

p.M353V

c.1057A>G

1 paper

NM_005026.5

p.G346V

c.1037G>T

2 papers

NM_005026.5

p.G346R

c.1036G>A

2 papers

NM_005026.5

p.G346R

c.1036G>C

1 paper

NM_005026.5

p.L354delFs

c.1062delG

1 paper

NM_005026.5

p.Q344L

c.1031A>T

1 paper

NM_005026.5

p.T357M

c.1070C>T

1 paper

NM_005026.5

p.L341P

c.1022T>C

1 paper

NM_005026.5

p.V358A

c.1073T>C

1 paper

NM_005026.5

p.S359A

c.1075T>G