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

4 papers

NM_000314.8

p.G293V

c.878G>T

Surrounding Variants

1 paper

NM_000314.8

p.G293A

c.878G>C

1 paper

NM_000314.8

p.G293_S294insFs

c.879_882dup4

1 paper

NM_000314.8

p.S294delFs

c.880delA

1 paper

NM_000314.8

p.G293G

c.879A>G

2 papers

NM_000314.8

p.S294_L295delFs

c.881_885del5

1 paper

NM_000314.8

p.S294_E307delFs

c.882_919del38

2 papers

NM_000314.8

p.G293R

c.877G>A

2 papers

NM_000314.8

p.G293R

c.877G>C

5 papers

NM_000314.8

p.G293fs

c.877_878fs

18 papers

NM_000314.8

p.G293*

c.877G>T

1 paper

NM_000314.8

p.G293fs

c.877_878fs

4 papers

NM_000314.8

p.S294fs

c.880_881fs