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

35 papers

NM_000314.8

p.I135V

c.403A>G

Surrounding Variants

6 papers

NM_000314.8

p.I135fs

c.403_404fs

12 papers

NM_000314.8

p.I135L

c.403A>C

12 papers

NM_000314.8

p.I135L

c.403A>T

1 paper

NM_000314.8

p.I135delFs

c.404delT

2 papers

NM_000314.8

p.I135fs

c.403_404fs

1 paper

NM_000314.8

p.I135_A137del0

c.404_409del6

1 paper

NM_000314.8

p.I135_Y138delFs

c.404_414del11

44 papers

NM_000314.8

p.M134I

c.402G>A

44 papers

NM_000314.8

p.M134I

c.402G>C

43 papers

NM_000314.8

p.M134I

c.402G>T

2 papers

NM_000314.8

p.I135_C136delFs

c.405_406delAT

23 papers

NM_000314.8

p.I135K

c.404T>A