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.T167fs

c.499_500fs

Surrounding Variants

4 papers

NM_000314.8

p.T167fs

c.499_500fs

10 papers

NM_000314.8

p.T167P

c.499A>C

37 papers

NM_000314.8

p.T167A

c.499A>G

9 papers

NM_000314.8

p.T167S

c.499A>T

1 paper

NM_000314.8

p.T167del1

c.499_500delACT

3 papers

NM_000314.8

p.T167_P169delFs

c.499_505del7

21 papers

NM_000314.8

p.T167N

c.500C>A

11 papers

NM_000314.8

p.T167S

c.500C>G

7 papers

NM_000314.8

p.T167I

c.500C>T

6 papers

NM_000314.8

p.I168delFs

c.502_503delAT

5 papers

NM_000314.8

p.V166E

c.497T>A

2 papers

NM_000314.8

p.V166A

c.497T>C