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

76 papers

NM_000314.8

p.N323fs

c.967_968fs

Surrounding Variants

1 paper

NM_000314.8

p.N323_D324insTA

c.967_971ins6

2 papers

NM_000314.8

p.N323H

c.967A>C

1 paper

NM_000314.8

p.N323Fs

c.967_968delinsCFs

46 papers

NM_000314.8

p.N323fs

c.967_968fs

1 paper

NM_000314.8

p.D324_Y336delFs

c.970_1006del37

1 paper

NM_000314.8

p.K322N

c.966A>C

1 paper

NM_000314.8

p.N323T

c.968A>C

1 paper

NM_000314.8

p.K322K

c.966A>G

1 paper

NM_000314.8

p.N323S

c.968A>G

1 paper

NM_000314.8

p.K322N

c.966A>T

2 papers

NM_000314.8

p.K322_N323Fs

c.966_967delinsGFs

5 papers

NM_000314.8

p.N323delFs

c.969delT