Varaico: Literature-Extracted Genetic Variants

Gene:PIK3C2B
Variant:p.E1595E

PIK3C2B

329 papers

RefSeq Summary

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell sur...

Pfam Domains

PI3K_rbdaa 364–466UCSCPI3-kinase family, ras-binding domain
PI3K_C2aa 648–788UCSCPhosphoinositide 3-kinase C2
PI3Kaaa 808–991UCSCPhosphoinositide 3-kinase family, accessory domain (PIK domain)
PI3_PI4_kinaseaa 1077–1292UCSCPhosphatidylinositol 3- and 4-kinase
PXaa 1392–1477UCSCPX domain
C2aa 1517–1626UCSCC2 domain

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta

HGNC Alias Symbols

C2-PI3K; PI3K-C2beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001377334.1
p.E1595E
c.4785G>A
Surrounding Variants
1 paper
NM_001377334.1
p.E1595Q
c.4783G>C
1 paper
NM_001377334.1
p.V1592M
c.4774G>A
1 paper
NM_001377334.1
p.Q1584Q
c.4752G>A
6 papers
NM_001377334.1
p.R1610H
c.4829G>A
1 paper
NM_001377334.1
p.G1577W
c.4729G>T
1 paper
NM_001377334.1
p.W1623*
c.4868G>A
1 paper
NM_001377334.1
p.W1623*
c.4869G>A
1 paper
NM_001377334.1
p.F1624V
c.4870T>G
1 paper
NM_001377334.1
p.G1627R
c.4879G>C
1 paper
NM_001377334.1
p.G1627R
c.4879G>A
1 paper
NM_001377334.1
p.M1572I
c.4716G>T
1 paper
NM_001377334.1
p.M1572I
c.4716G>C
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