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

12 papers

NM_000314.8

p.C211insFs

c.631_632insG

Surrounding Variants

3 papers

NM_000314.8

p.C211S

c.631T>A

11 papers

NM_000314.8

p.C211fs

c.631_632fs

2 papers

NM_000314.8

p.C211delFs

c.632delG

7 papers

NM_000314.8

p.C211fs

c.631_632fs

5 papers

NM_000314.8

p.C211Y

c.632G>A

3 papers

NM_000314.8

p.C211S

c.632G>C

1 paper

NM_000314.8

p.C211insFs

c.632_633insT

20 papers

NM_000314.8

p.C211*

c.633C>A

1 paper

NM_000314.8

p.N212insFs

c.634dupA

2 papers

NM_000314.8

p.C211insFs

c.631dupT

14 papers

NM_000314.8

p.C211W

c.633C>G

1 paper

NM_000314.8

p.T210I

c.629C>T