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

4 papers

NM_000314.8

p.E285fs

c.853_854fs

Surrounding Variants

15 papers

NM_000314.8

p.E285K

c.853G>A

10 papers

NM_000314.8

p.E285*

c.853G>T

1 paper

NM_000314.8

p.T286delFs

c.856delA

2 papers

NM_000314.8

p.E285A

c.854A>C

1 paper

NM_000314.8

p.E285V

c.854A>T

1 paper

NM_000314.8

p.E284E

c.852G>A

1 paper

NM_000314.8

p.T286_E288del3

c.856_863del9

1 paper

NM_000314.8

p.E285_G293del9

c.853_878del27

1 paper

NM_000314.8

p.E285insFs

c.853dupG

1 paper

NM_000314.8

p.E284A

c.851A>C

2 papers

NM_000314.8

p.E284G

c.851A>G

2 papers

NM_000314.8

p.T286fs

c.856_857fs