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.L140S

c.419T>C

Surrounding Variants

7 papers

NM_000314.8

p.L140*

c.419T>A

9 papers

NM_000314.8

p.L140*

c.419T>G

6 papers

NM_000314.8

p.L140_H141insFs

c.420_421insA

1 paper

NM_000314.8

p.H141_K147delFs

c.421_440del20

8 papers

NM_000314.8

p.L140F

c.420A>C

8 papers

NM_000314.8

p.L140F

c.420A>T

1 paper

NM_000314.8

p.L140fs

c.418_419fs

1 paper

NM_000314.8

p.L140fs

c.418_419fs

4 papers

NM_000314.8

p.L139F

c.417A>C

4 papers

NM_000314.8

p.L139F

c.417A>T

2 papers

NM_000314.8

p.H141N

c.421C>A

1 paper

NM_000314.8

p.H141insFs

c.421_422insA