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

91 papers

NM_000314.8

p.P246L

c.737C>T

Surrounding Variants

1 paper

NM_000314.8

p.P246Q

c.737C>A

1 paper

NM_000314.8

p.P246ins1

c.737_738insAAG

1 paper

NM_000314.8

p.P246insFs

c.737_738ins5

1 paper

NM_000314.8

p.P246insFs

c.738dupG

3 papers

NM_000314.8

p.P246insFs

c.737_738ins7

2 papers

NM_000314.8

p.P246insFs

c.737_738insGT

6 papers

NM_000314.8

p.P246R

c.737C>G

1 paper

NM_000314.8

p.P246Fs

c.737delinsGGGGAGTGFs

4 papers

NM_000314.8

p.P246delFs

c.738delG

2 papers

NM_000314.8

p.P246T

c.736C>A

1 paper

NM_000314.8

p.P246insFs

c.736_737insAG

1 paper

NM_000314.8

p.P246insFs

c.737_738ins7