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

6 papers

NM_000314.8

p.E314fs

c.940_941fs

Surrounding Variants

4 papers

NM_000314.8

p.E314K

c.940G>A

3 papers

NM_000314.8

p.E314fs

c.940_941fs

10 papers

NM_000314.8

p.E314*

c.940G>T

5 papers

NM_000314.8

p.E314delFs

c.941delA

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

2 papers

NM_000314.8

p.E314insFs

c.940dupG

5 papers

NM_000314.8

p.K313R

c.938A>G

3 papers

NM_000314.8

p.E314E

c.942A>G

2 papers

NM_000314.8

p.K313delFs

c.939delG