Varaico: Literature-Extracted Genetic Variants

Gene:PIK3C3
Variant:p.K254E

PIK3C3

241 papers

Pfam Domains

PI3K_C2aa 53–198UCSCPhosphoinositide 3-kinase C2
PI3Kaaa 284–530UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)
PI3_PI4_kinaseaa 630–833UCSCPhosphatidylinositol 3- and 4-kinase

Gene Aliases

HGNC Name

phosphatidylinositol 3-kinase catalytic subunit type 3

HGNC Alias Symbols

Vps34; hVps34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_002647.4
p.K254E
c.760A>G
Surrounding Variants
1 paper
NM_002647.4
p.V253A
c.758T>C
1 paper
NM_002647.4
p.E251Q
c.751G>C
1 paper
NM_002647.4
p.E251_L252del1
c.752_754delAAT
1 paper
NM_002647.4
p.Q259delFs
c.777delG
1 paper
NM_002647.4
p.M260T
c.779T>C
1 paper
NM_002647.4
p.D239D
c.717C>T
1 paper
NM_002647.4
p.E263D
c.789G>C
1 paper
NM_002647.4
p.N264Y
c.790A>T
1 paper
NM_002647.4
p.R278I
c.833G>T
1 paper
NM_002647.4
p.P281S
c.841C>T
1 paper
NM_002647.4
p.P281R
c.842C>G
1 paper
NM_002647.4
p.S282A
c.844T>G
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