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

3 papers

NM_000314.8

p.P204fs

c.610_611fs

Surrounding Variants

8 papers

NM_000314.8

p.P204T

c.610C>A

4 papers

NM_000314.8

p.P204fs

c.610_611fs

16 papers

NM_000314.8

p.P204A

c.610C>G

15 papers

NM_000314.8

p.P204S

c.610C>T

1 paper

NM_000314.8

p.P204Q

c.611C>A

1 paper

NM_000314.8

p.M205insFs

c.613_614insA

3 papers

NM_000314.8

p.P204R

c.611C>G

16 papers

NM_000314.8

p.P204L

c.611C>T

1 paper

NM_000314.8

p.P204insFs

c.611dupC

3 papers

NM_000314.8

p.P204delFs

c.611delC

1 paper

NM_000314.8

p.I203_P204Fs

c.609_611delinsATAAAFs

1 paper

NM_000314.8

p.I203_P204delins

c.609_611delinsATAAAT