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.S302fs

c.904_905fs

Surrounding Variants

4 papers

NM_000314.8

p.S302R

c.904A>C

4 papers

NM_000314.8

p.S302G

c.904A>G

1 paper

NM_000314.8

p.S302fs

c.904_905fs

6 papers

NM_000314.8

p.S302N

c.905G>A

1 paper

NM_000314.8

p.D301D

c.903T>C

2 papers

NM_000314.8

p.D301A

c.902A>C

4 papers

NM_000314.8

p.S302R

c.906C>A

4 papers

NM_000314.8

p.S302R

c.906C>G

1 paper

NM_000314.8

p.I303delFs

c.907delA

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