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.V217V

c.651C>T

Surrounding Variants

8 papers

NM_000314.8

p.V217D

c.650T>A

7 papers

NM_000314.8

p.V217A

c.650T>C

1 paper

NM_000314.8

p.C218R

c.652T>C

4 papers

NM_000314.8

p.V217G

c.650T>G

3 papers

NM_000314.8

p.C218fs

c.652_653fs

1 paper

NM_000314.8

p.V217delFs

c.651delC

2 papers

NM_000314.8

p.C218fs

c.652_653fs

9 papers

NM_000314.8

p.V217I

c.649G>A

3 papers

NM_000314.8

p.C218Y

c.653G>A

2 papers

NM_000314.8

p.V217L

c.649G>C

2 papers

NM_000314.8

p.V217fs

c.649_650fs

7 papers

NM_000314.8

p.V217F

c.649G>T