Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.T319fs

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
105 papers
NM_000314.8
p.T319fs
c.955_956fs
Surrounding Variants
1 paper
NM_000314.8
p.T319insFs
c.955_956insT
3 papers
NM_000314.8
p.T319A
c.955A>G
2 papers
NM_000314.8
p.T319delFs
c.956delC
24 papers
NM_000314.8
p.T319fs
c.955_956fs
15 papers
NM_000314.8
p.T319_L320delFs
c.956_959del4
1 paper
NM_000314.8
p.T319insFs
c.956_957insA
7 papers
NM_000314.8
p.T319insFs
c.956_957insT
6 papers
NM_000314.8
p.T319I
c.956C>T
2 papers
NM_000314.8
p.L320delFs
c.959delT
1 paper
NM_000314.8
p.L318L
c.954T>C
21 papers
NM_000314.8
p.T319insFs
c.955dupA
1 paper
NM_000314.8
p.T319_N329insFs
c.956_986dup31
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