Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.R233*

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
358 papers
NM_000314.8
p.R233*
c.697C>T
Surrounding Variants
2 papers
NM_000314.8
p.R233R
c.697C>A
4 papers
NM_000314.8
p.R233insFs
c.697_698insA
12 papers
NM_000314.8
p.R233fs
c.697_698fs
3 papers
NM_000314.8
p.R233insFs
c.697_698ins8
3 papers
NM_000314.8
p.R233G
c.697C>G
11 papers
NM_000314.8
p.R233fs
c.697_698fs
2 papers
NM_000314.8
p.R234_D236delFs
c.701_708del8
1 paper
NM_000314.8
p.T232_R233insFs
c.696_697ins8
1 paper
NM_000314.8
p.R234insFs
c.700_701ins11
4 papers
NM_000314.8
p.T232_R233insFs
c.696_697insG
1 paper
NM_000314.8
p.T232_R233insFs
c.696_697insGG
1 paper
NM_000314.8
p.T232_R233insFs
c.696_697ins28
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