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

7 papers

NM_000314.8

p.L98P

c.293T>C

Surrounding Variants

1 paper

NM_000314.8

p.L98Q

c.293T>A

5 papers

NM_000314.8

p.L98R

c.293T>G

1 paper

NM_000314.8

p.L98delFs

c.294delA

1 paper

NM_000314.8

p.L98_E99delFs

c.294_297del4

1 paper

NM_000314.8

p.E99_K102del4

c.295_305del12

1 paper

NM_000314.8

p.L98L

c.294A>G

1 paper

NM_000314.8

p.E99_L100del2

c.295_299del6

1 paper

NM_000314.8

p.L98I

c.292C>A

1 paper

NM_000314.8

p.L98fs

c.292_293fs

2 papers

NM_000314.8

p.L98V

c.292C>G

3 papers

NM_000314.8

p.L98L

c.292C>T

1 paper

NM_000314.8

p.L98fs

c.292_293fs