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

17 papers

NM_000314.8

p.Y76*

c.228T>G

Surrounding Variants

17 papers

NM_000314.8

p.Y76*

c.228T>A

1 paper

NM_000314.8

p.Y76Y

c.228T>C

1 paper

NM_000314.8

p.Y76insFs

c.228dupT

1 paper

NM_000314.8

p.Y76C

c.227A>G

1 paper

NM_000314.8

p.Y76F

c.227A>T

1 paper

NM_000314.8

p.Y76delFs

c.228delT

2 papers

NM_000314.8

p.D77N

c.229G>A

1 paper

NM_000314.8

p.D77H

c.229G>C

1 paper

NM_000314.8

p.D77Y

c.229G>T

2 papers

NM_000314.8

p.T78delFs

c.232_233delAC

1 paper

NM_000314.8

p.D77A

c.230A>C

2 papers

NM_000314.8

p.D77G

c.230A>G