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

1 paper

NM_000314.8

p.R233R

c.699A>C

Surrounding Variants

1 paper

NM_000314.8

p.R233_R234insFs

c.699_700ins8

1 paper

NM_000314.8

p.R234insFs

c.700dupC

1 paper

NM_000314.8

p.R234insFs

c.700_701ins7

1 paper

NM_000314.8

p.R233_R234insFs

c.699_700ins10

1 paper

NM_000314.8

p.R233_R234insFs

c.699_700ins11

1 paper

NM_000314.8

p.R233R

c.699A>G

2 papers

NM_000314.8

p.R233R

c.699A>T

2 papers

NM_000314.8

p.R234delFs

c.700delC

1 paper

NM_000314.8

p.R233_R234Fs

c.698_701delinsGGGGGAGAFs

1 paper

NM_000314.8

p.R233_E235Fs

c.699_704delinsGGGGGGCGFs

2 papers

NM_000314.8

p.E235insFs

c.703dupG

9 papers

NM_000314.8

p.R234fs

c.700_701fs