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

3 papers

NM_000314.8

p.S287fs

c.859_860fs

Surrounding Variants

6 papers

NM_000314.8

p.S287P

c.859T>C

1 paper

NM_000314.8

p.S287_K289delFs

c.860_867del8

20 papers

NM_000314.8

p.S287*

c.860C>A

22 papers

NM_000314.8

p.S287*

c.860C>G

3 papers

NM_000314.8

p.S287L

c.860C>T

1 paper

NM_000314.8

p.E288delFs

c.862_863delGA

1 paper

NM_000314.8

p.S287_K289del3

c.859_866del9

1 paper

NM_000314.8

p.T286S

c.857C>G

3 papers

NM_000314.8

p.T286I

c.857C>T

1 paper

NM_000314.8

p.T286_K289delFs

c.858_865del8

2 papers

NM_000314.8

p.T286fs

c.856_857fs

1 paper

NM_000314.8

p.T286A

c.856A>G