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.R389H

c.1166G>A

Surrounding Variants

3 papers

NM_005026.5

p.R386H

c.1157G>A

1 paper

NM_005026.5

p.R386L

c.1157G>T

2 papers

NM_005026.5

p.R386C

c.1156C>T

1 paper

NM_005026.5

p.A393V

c.1178C>T

1 paper

NM_005026.5

p.L394P

c.1181T>C

2 papers

NM_005026.5

p.D383G

c.1148A>G

1 paper

NM_005026.5

p.Y395C

c.1184A>G

1 paper

NM_005026.5

p.A396T

c.1186G>A

1 paper

NM_005026.5

p.V397M

c.1189G>A

1 paper

NM_005026.5

p.V397V

c.1191G>A

1 paper

NM_005026.5

p.I379M

c.1137C>G

1 paper

NM_005026.5

p.E399K

c.1195G>A