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

47 papers

NM_000314.8

p.F341V

c.1021T>G

Surrounding Variants

2 papers

NM_000314.8

p.F341I

c.1021T>A

4 papers

NM_000314.8

p.F341L

c.1021T>C

3 papers

NM_000314.8

p.F341fs

c.1021_1022fs

4 papers

NM_000314.8

p.F341fs

c.1021_1022fs

4 papers

NM_000314.8

p.F341Y

c.1022T>A

2 papers

NM_000314.8

p.F341S

c.1022T>C

11 papers

NM_000314.8

p.F341C

c.1022T>G

1 paper

NM_000314.8

p.F341insFs

c.1022_1023insT

4 papers

NM_000314.8

p.N340delFs

c.1020delT

4 papers

NM_000314.8

p.F341L

c.1023T>A

4 papers

NM_000314.8

p.F341L

c.1023T>G

4 papers

NM_000314.8

p.N340fs

c.1018_1019fs