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

9 papers

NM_000314.8

p.L320fs

c.958_959fs

Surrounding Variants

5 papers

NM_000314.8

p.L320V

c.958T>G

8 papers

NM_000314.8

p.L320fs

c.958_959fs

29 papers

NM_000314.8

p.L320*

c.959T>A

19 papers

NM_000314.8

p.L320S

c.959T>C

29 papers

NM_000314.8

p.L320*

c.959T>G

3 papers

NM_000314.8

p.L320delFs

c.960delA

1 paper

NM_000314.8

p.T319_L320Fs

c.957_958delinsGFs

1 paper

NM_000314.8

p.L320F

c.960A>C

1 paper

NM_000314.8

p.L320F

c.960A>T

1 paper

NM_000314.8

p.T321_D326del6

c.961_977del18

1 paper

NM_000314.8

p.T319insFs

c.956_957insA

7 papers

NM_000314.8

p.T319insFs

c.956_957insT