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

2 papers

NM_000314.8

p.N63I

c.188A>T

Surrounding Variants

1 paper

NM_000314.8

p.N63S

c.188A>G

1 paper

NM_000314.8

p.H64delFs

c.190delC

1 paper

NM_000314.8

p.N63_K66insFs

c.189_196dup8

10 papers

NM_000314.8

p.N63fs

c.187_188fs

2 papers

NM_000314.8

p.N63H

c.187A>C

2 papers

NM_000314.8

p.N63D

c.187A>G

4 papers

NM_000314.8

p.N63Y

c.187A>T

7 papers

NM_000314.8

p.N63fs

c.187_188fs

1 paper

NM_000314.8

p.N63K

c.189C>A

1 paper

NM_000314.8

p.N63_H64insFs

c.189_190insA

1 paper

NM_000314.8

p.N63K

c.189C>G

1 paper

NM_000314.8

p.K62N

c.186A>C