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.S229insFs

c.685_686dupTC

Surrounding Variants

1 paper

NM_000314.8

p.N228_R234Fs

c.684_701delinsCCCAGGTGACFs

1 paper

NM_000314.8

p.S229insFs

c.685dupT

6 papers

NM_000314.8

p.N228S

c.683A>G

2 papers

NM_000314.8

p.S229delFs

c.685delT

1 paper

NM_000314.8

p.N228_R234Fs

c.683_701delinsCCGAACFs

6 papers

NM_000314.8

p.S229T

c.685T>A

1 paper

NM_000314.8

p.S229A

c.685T>G

5 papers

NM_000314.8

p.S229fs

c.685_686fs

1 paper

NM_000314.8

p.S229_R233delFs

c.686_698del13

1 paper

NM_000314.8

p.S229_K237del0

c.686_709del24

2 papers

NM_000314.8

p.N228fs

c.682_683fs

1 paper

NM_000314.8

p.N228H

c.682A>C