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

2 papers

NM_000314.8

p.T78fs

c.232_233fs

Surrounding Variants

1 paper

NM_000314.8

p.T78insFs

c.234dupC

9 papers

NM_000314.8

p.T78A

c.232A>G

6 papers

NM_000314.8

p.T78S

c.232A>T

1 paper

NM_000314.8

p.T78fs

c.232_233fs

3 papers

NM_000314.8

p.T78N

c.233C>A

1 paper

NM_000314.8

p.D77E

c.231C>A

2 papers

NM_000314.8

p.T78S

c.233C>G

1 paper

NM_000314.8

p.D77E

c.231C>G

4 papers

NM_000314.8

p.T78I

c.233C>T

1 paper

NM_000314.8

p.D77D

c.231C>T

1 paper

NM_000314.8

p.D77A

c.230A>C

2 papers

NM_000314.8

p.D77G

c.230A>G