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.M143I

c.429G>C

Surrounding Variants

1 paper

NM_005026.5

p.M143I

c.429G>A

1 paper

NM_005026.5

p.M143I

c.429G>T

1 paper

NM_005026.5

p.C144Y

c.431G>A

1 paper

NM_005026.5

p.Q145Fs

c.433delinsGAFs

1 paper

NM_005026.5

p.Q145fs

c.433_434fs

5 papers

NM_005026.5

p.F146I

c.436T>A

1 paper

NM_005026.5

p.F146_C147insA

c.436_440ins3

1 paper

NM_005026.5

p.A141P

c.421G>C

1 paper

NM_005026.5

p.A141S

c.421G>T

1 paper

NM_005026.5

p.R140R

c.420C>A

1 paper

NM_005026.5

p.R140C

c.418C>T

1 paper

NM_005026.5

p.E148*

c.442G>T