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

3 papers

NM_000314.8

p.Y315H

c.943T>C

Surrounding Variants

2 papers

NM_000314.8

p.Y315fs

c.943_944fs

1 paper

NM_000314.8

p.Y315fs

c.943_944fs

2 papers

NM_000314.8

p.Y315insFs

c.944_945insCT

3 papers

NM_000314.8

p.E314E

c.942A>G

5 papers

NM_000314.8

p.Y315F

c.944A>T

1 paper

NM_000314.8

p.Y315delFs

c.943delT

2 papers

NM_000314.8

p.E314A

c.941A>C

1 paper

NM_000314.8

p.E314G

c.941A>G

1 paper

NM_000314.8

p.E314V

c.941A>T

1 paper

NM_000314.8

p.E314_Y315delFs

c.942_945del4

20 papers

NM_000314.8

p.Y315*

c.945T>A

1 paper

NM_000314.8

p.Y315Y

c.945T>C