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

33 papers

NM_000314.8

p.S59*

c.176C>G

Surrounding Variants

32 papers

NM_000314.8

p.S59*

c.176C>A

1 paper

NM_000314.8

p.S59insFs

c.176_177insG

3 papers

NM_000314.8

p.S59L

c.176C>T

6 papers

NM_000314.8

p.K60delFs

c.179delA

1 paper

NM_000314.8

p.S59S

c.177A>C

1 paper

NM_000314.8

p.S59S

c.177A>G

1 paper

NM_000314.8

p.S59S

c.177A>T

2 papers

NM_000314.8

p.S59T

c.175T>A

4 papers

NM_000314.8

p.S59P

c.175T>C

1 paper

NM_000314.8

p.S59A

c.175T>G

1 paper

NM_000314.8

p.S59_K60insQK

c.175_179ins6

1 paper

NM_000314.8

p.S59Fs

c.175_176delinsAFs