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

22 papers

NM_000314.8

p.S287*

c.860C>G

Surrounding Variants

20 papers

NM_000314.8

p.S287*

c.860C>A

3 papers

NM_000314.8

p.S287L

c.860C>T

1 paper

NM_000314.8

p.E288delFs

c.862_863delGA

6 papers

NM_000314.8

p.S287P

c.859T>C

3 papers

NM_000314.8

p.S287fs

c.859_860fs

1 paper

NM_000314.8

p.S287_K289delFs

c.860_867del8

1 paper

NM_000314.8

p.S287_K289del3

c.859_866del9

11 papers

NM_000314.8

p.E288K

c.862G>A

10 papers

NM_000314.8

p.K289insFs

c.867dupA

19 papers

NM_000314.8

p.E288fs

c.862_863fs

7 papers

NM_000314.8

p.E288*

c.862G>T

26 papers

NM_000314.8

p.E288delFs

c.863delA