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.E527K

c.1579G>A

Surrounding Variants

1 paper

NM_005026.5

p.E527A

c.1580A>C

5 papers

NM_005026.5

p.E527G

c.1580A>G

2 papers

NM_005026.5

p.H526R

c.1577A>G

1 paper

NM_005026.5

p.K528E

c.1582A>G

1 paper

NM_005026.5

p.E525D

c.1575G>C

1 paper

NM_005026.5

p.E525D

c.1575G>T

23 papers

NM_005026.5

p.E525A

c.1574A>C

15 papers

NM_005026.5

p.E525G

c.1574A>G

57 papers

NM_005026.5

p.E525K

c.1573G>A

3 papers

NM_005026.5

p.D529G

c.1586A>G

8 papers

NM_005026.5

p.Y524S

c.1571A>C

4 papers

NM_005026.5

p.Y524C

c.1571A>G