Varaico: Literature-Extracted Genetic Variants

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

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

52 papers

NM_000314.8

p.I101T

c.302T>C

Surrounding Variants

10 papers

NM_000314.8

p.I101N

c.302T>A

4 papers

NM_000314.8

p.I101S

c.302T>G

1 paper

NM_000314.8

p.K102_P103insFs

c.304_308dup5

7 papers

NM_000314.8

p.I101_K102Fs

c.302_304delinsCCFs

2 papers

NM_000314.8

p.I101_K102Fs

c.302_305delinsACCFs

7 papers

NM_000314.8

p.I101fs

c.301_302fs

1 paper

NM_000314.8

p.I101V

c.301A>G

3 papers

NM_000314.8

p.I101F

c.301A>T

6 papers

NM_000314.8

p.I101delFs

c.302delT

1 paper

NM_000314.8

p.I101delins

c.301_302delinsCA

7 papers

NM_000314.8

p.I101fs

c.301_302fs

2 papers

NM_000314.8

p.K102ins0

c.304_306dupAAA