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.E56G

c.167A>G

Surrounding Variants

2 papers

NM_005026.5

p.P57S

c.169C>T

1 paper

NM_005026.5

p.P57P

c.171G>T

1 paper

NM_005026.5

p.Y55D

c.163T>G

1 paper

NM_005026.5

p.Y55_S63del9

c.163_188del27

1 paper

NM_005026.5

p.A53A

c.159C>G

1 paper

NM_005026.5

p.A53A

c.159C>T

2 papers

NM_005026.5

p.R52H

c.155G>A

2 papers

NM_005026.5

p.H51L

c.152A>T

1 paper

NM_005026.5

p.S63R

c.187A>C

1 paper

NM_005026.5

p.L49insFs

c.146_147insA

1 paper

NM_005026.5

p.S63R

c.189T>A

1 paper

NM_005026.5

p.S63R

c.189T>G