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.Y68Y

c.204C>T

Surrounding Variants

16 papers

NM_000314.8

p.Y68*

c.204C>A

18 papers

NM_000314.8

p.Y68*

c.204C>G

1 paper

NM_000314.8

p.Y68insFs

c.203_204ins4

2 papers

NM_000314.8

p.N69fs

c.205_206fs

7 papers

NM_000314.8

p.Y68S

c.203A>C

1 paper

NM_000314.8

p.N69H

c.205A>C

34 papers

NM_000314.8

p.Y68C

c.203A>G

4 papers

NM_000314.8

p.N69D

c.205A>G

5 papers

NM_000314.8

p.Y68F

c.203A>T

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.N69_L70insFs

c.207_208insGT