Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.K13N

PTEN

6,035 papers

RefSeq Summary

This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphat...

Pfam Domains

Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
PTEN_C2aa 188–349UCSCC2 domain of PTEN tumour-suppressor protein
PTEN_C2aa 188–349UCSCC2 domain of PTEN tumour-suppressor protein

Gene Aliases

HGNC Name

phosphatase and tensin homolog

HGNC Previous Symbols

BZS; MHAM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000314.8
p.K13N
c.39A>C
Surrounding Variants
2 papers
NM_000314.8
p.K13K
c.39A>G
7 papers
NM_000314.8
p.K13N
c.39A>T
3 papers
NM_000314.8
p.R14del1
c.40_41delAGG
1 paper
NM_000314.8
p.R14_Y16delFs
c.40_46del7
1 paper
NM_000314.8
p.R14_E18del5
c.40_53del15
1 paper
NM_000314.8
p.K13insFs
c.38_39insC
2 papers
NM_000314.8
p.K13insFs
c.38_39insG
11 papers
NM_000314.8
p.R14fs
c.40_41fs
1 paper
NM_000314.8
p.R14insFs
c.40_41ins16
9 papers
NM_000314.8
p.K13T
c.38A>C
23 papers
NM_000314.8
p.K13R
c.38A>G
22 papers
NM_000314.8
p.R14G
c.40A>G
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