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.N49K

c.147T>A

Surrounding Variants

1 paper

NM_000314.8

p.N49K

c.147T>G

3 papers

NM_000314.8

p.N49T

c.146A>C

1 paper

NM_000314.8

p.I50L

c.148A>C

3 papers

NM_000314.8

p.N49S

c.146A>G

1 paper

NM_000314.8

p.I50V

c.148A>G

19 papers

NM_000314.8

p.N49I

c.146A>T

10 papers

NM_000314.8

p.I50F

c.148A>T

2 papers

NM_000314.8

p.I50delFs

c.150delT

1 paper

NM_000314.8

p.I50del1

c.148_149delATT

1 paper

NM_000314.8

p.I50fs

c.148_149fs

1 paper

NM_000314.8

p.N49_D52Fs

c.147_154delinsTGGCFs

2 papers

NM_000314.8

p.N49fs

c.145_146fs