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.Q298R

c.893A>G

Surrounding Variants

2 papers

NM_000314.8

p.E299delFs

c.895_896delGA

1 paper

NM_000314.8

p.Q298H

c.894A>T

3 papers

NM_000314.8

p.Q298K

c.892C>A

4 papers

NM_000314.8

p.Q298fs

c.892_893fs

1 paper

NM_000314.8

p.Q298_E299insT

c.892_896ins3

16 papers

NM_000314.8

p.Q298E

c.892C>G

56 papers

NM_000314.8

p.Q298*

c.892C>T

1 paper

NM_000314.8

p.Q298fs

c.892_893fs

1 paper

NM_000314.8

p.E299K

c.895G>A

1 paper

NM_000314.8

p.E299_I300insFs

c.897_898dupAA

1 paper

NM_000314.8

p.E299insFs

c.895_896insTA

39 papers

NM_000314.8

p.E299*

c.895G>T