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

99 papers

NM_000314.8

p.C136R

c.406T>C

Surrounding Variants

3 papers

NM_000314.8

p.C136S

c.406T>A

1 paper

NM_000314.8

p.C136G

c.406T>G

3 papers

NM_000314.8

p.C136insFs

c.406_407insA

12 papers

NM_000314.8

p.C136fs

c.406_407fs

1 paper

NM_000314.8

p.C136_A137insT

c.406_410ins3

1 paper

NM_000314.8

p.C136delFs

c.407delG

9 papers

NM_000314.8

p.C136fs

c.406_407fs

2 papers

NM_000314.8

p.C136insFs

c.406dupT

5 papers

NM_000314.8

p.I135M

c.405A>G

3 papers

NM_000314.8

p.I135I

c.405A>T

2 papers

NM_000314.8

p.C136delFs

c.406delT

1 paper

NM_000314.8

p.C136del1

c.406_407delTGT