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.C304_S305delFs

c.910_913del4

Surrounding Variants

2 papers

NM_000314.8

p.C304S

c.910T>A

1 paper

NM_000314.8

p.I303N

c.908T>A

1 paper

NM_000314.8

p.I303T

c.908T>C

2 papers

NM_000314.8

p.C304G

c.910T>G

1 paper

NM_000314.8

p.I303S

c.908T>G

1 paper

NM_000314.8

p.C304fs

c.910_911fs

1 paper

NM_000314.8

p.C304_S305insT

c.910_914ins3

4 papers

NM_000314.8

p.I303fs

c.907_908fs

1 paper

NM_000314.8

p.I303insFs

c.908dupT

1 paper

NM_000314.8

p.I303V

c.907A>G

1 paper

NM_000314.8

p.I303fs

c.907_908fs

1 paper

NM_000314.8

p.C304S

c.911G>C