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

8 papers

NM_000314.8

p.F200S

c.599T>C

Surrounding Variants

1 paper

NM_000314.8

p.F200C

c.599T>G

1 paper

NM_000314.8

p.F200_E201delFs

c.600_601delTG

1 paper

NM_000314.8

p.F200I

c.598T>A

1 paper

NM_000314.8

p.F200L

c.600T>A

1 paper

NM_000314.8

p.F200L

c.598T>C

1 paper

NM_000314.8

p.F200F

c.600T>C

2 papers

NM_000314.8

p.F200V

c.598T>G

1 paper

NM_000314.8

p.F200L

c.600T>G

2 papers

NM_000314.8

p.F200fs

c.598_599fs

2 papers

NM_000314.8

p.F200_E201insT

c.598_602ins3

4 papers

NM_000314.8

p.E201K

c.601G>A

1 paper

NM_000314.8

p.M199I

c.597G>A