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

4 papers

NM_000314.8

p.F104L

c.312T>A

Surrounding Variants

4 papers

NM_000314.8

p.F104L

c.312T>G

1 paper

NM_000314.8

p.C105_E106delFs

c.313_317del5

5 papers

NM_000314.8

p.C105S

c.313T>A

3 papers

NM_000314.8

p.F104Y

c.311T>A

11 papers

NM_000314.8

p.C105R

c.313T>C

2 papers

NM_000314.8

p.F104S

c.311T>C

6 papers

NM_000314.8

p.C105G

c.313T>G

1 paper

NM_000314.8

p.F104C

c.311T>G

12 papers

NM_000314.8

p.C105fs

c.313_314fs

4 papers

NM_000314.8

p.C105fs

c.313_314fs

1 paper

NM_000314.8

p.L108_D115del0

c.322_345del24

32 papers

NM_000314.8

p.C105Y

c.314G>A