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

2 papers

NM_000314.8

p.K102fs

c.304_305fs

Surrounding Variants

4 papers

NM_000314.8

p.K102insFs

c.304_305insT

3 papers

NM_000314.8

p.K102Q

c.304A>C

2 papers

NM_000314.8

p.K102E

c.304A>G

1 paper

NM_000314.8

p.K102*

c.304A>T

3 papers

NM_000314.8

p.K102fs

c.304_305fs

1 paper

NM_000314.8

p.K102T

c.305A>C

1 paper

NM_000314.8

p.K102R

c.305A>G

1 paper

NM_000314.8

p.K102I

c.305A>T

2 papers

NM_000314.8

p.K102ins0

c.304_306dupAAA

7 papers

NM_000314.8

p.I101M

c.303C>G

3 papers

NM_000314.8

p.K102delFs

c.306delA

2 papers

NM_000314.8

p.P103insFs

c.309dupC