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

11 papers

NM_000314.8

p.Y176del1

c.526_527delTAT

Surrounding Variants

1 paper

NM_000314.8

p.Y176insFs

c.527_528dupAT

1 paper

NM_000314.8

p.Y176_Y180del5

c.526_539del15

5 papers

NM_000314.8

p.V175E

c.524T>A

3 papers

NM_000314.8

p.V175A

c.524T>C

1 paper

NM_000314.8

p.Y176H

c.526T>C

1 paper

NM_000314.8

p.V175G

c.524T>G

1 paper

NM_000314.8

p.V175delins

c.524delinsGAAGGCC

4 papers

NM_000314.8

p.Y176fs

c.526_527fs

2 papers

NM_000314.8

p.Y176fs

c.526_527fs

1 paper

NM_000314.8

p.V175delFs

c.525delG

25 papers

NM_000314.8

p.Y176C

c.527A>G

1 paper

NM_000314.8

p.Y176F

c.527A>T