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

23 papers

NM_000314.8

p.I135K

c.404T>A

Surrounding Variants

11 papers

NM_000314.8

p.I135T

c.404T>C

10 papers

NM_000314.8

p.I135R

c.404T>G

16 papers

NM_000314.8

p.I135insFs

c.405dupA

1 paper

NM_000314.8

p.I135_C136del1

c.405_407delATG

2 papers

NM_000314.8

p.C136_A137del2

c.406_410del6

6 papers

NM_000314.8

p.I135fs

c.403_404fs

2 papers

NM_000314.8

p.C136insFs

c.406dupT

12 papers

NM_000314.8

p.I135L

c.403A>C

35 papers

NM_000314.8

p.I135V

c.403A>G

5 papers

NM_000314.8

p.I135M

c.405A>G

12 papers

NM_000314.8

p.I135L

c.403A>T

3 papers

NM_000314.8

p.I135I

c.405A>T