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.G230fs

c.688_689fs

Surrounding Variants

6 papers

NM_000314.8

p.G230R

c.688G>A

5 papers

NM_000314.8

p.G230R

c.688G>C

1 paper

NM_000314.8

p.G230insFs

c.688_689ins4

5 papers

NM_000314.8

p.G230fs

c.688_689fs

8 papers

NM_000314.8

p.G230*

c.688G>T

1 paper

NM_000314.8

p.P231_D236delFs

c.692_708del17

3 papers

NM_000314.8

p.G230insFs

c.688_689dupGG

9 papers

NM_000314.8

p.G230E

c.689G>A

3 papers

NM_000314.8

p.G230A

c.689G>C

1 paper

NM_000314.8

p.P231_T232insFs

c.692_695dup4

6 papers

NM_000314.8

p.G230V

c.689G>T

1 paper

NM_000314.8

p.P231insFs

c.693dupC