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

1 paper

NM_000314.8

p.N69_L70insFs

c.207_208insGT

Surrounding Variants

2 papers

NM_000314.8

p.N69T

c.206A>C

8 papers

NM_000314.8

p.N69S

c.206A>G

1 paper

NM_000314.8

p.L70delFs

c.208_209delCT

2 papers

NM_000314.8

p.N69fs

c.205_206fs

1 paper

NM_000314.8

p.N69H

c.205A>C

4 papers

NM_000314.8

p.N69D

c.205A>G

1 paper

NM_000314.8

p.N69Y

c.205A>T

4 papers

NM_000314.8

p.N69fs

c.205_206fs

1 paper

NM_000314.8

p.N69K

c.207T>A

1 paper

NM_000314.8

p.N69K

c.207T>G

16 papers

NM_000314.8

p.Y68*

c.204C>A

6 papers

NM_000314.8

p.L70I

c.208C>A