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

1 paper

NM_000314.8

p.V175delFs

c.523delG

Surrounding Variants

4 papers

NM_000314.8

p.Y174*

c.522T>A

5 papers

NM_000314.8

p.Y174*

c.522T>G

1 paper

NM_000314.8

p.Y174_V175insFs

c.522_523insGC

2 papers

NM_000314.8

p.V175_Y176insFs

c.525_526dupGT

1 paper

NM_000314.8

p.Y174S

c.521A>C

14 papers

NM_000314.8

p.Y174C

c.521A>G

4 papers

NM_000314.8

p.Y174F

c.521A>T

1 paper

NM_000314.8

p.V175_Y176delFs

c.525_526delGT

1 paper

NM_000314.8

p.V175_L186delFs

c.524_558del35

9 papers

NM_000314.8

p.V175M

c.523G>A

5 papers

NM_000314.8

p.V175L

c.523G>C

1 paper

NM_000314.8

p.V175fs

c.523_524fs