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

12 papers

NM_000314.8

p.Y240F

c.719A>T

Surrounding Variants

1 paper

NM_000314.8

p.Y240C

c.719A>G

1 paper

NM_000314.8

p.Y240delFs

c.720delC

18 papers

NM_000314.8

p.Y240*

c.720C>A

1 paper

NM_000314.8

p.Y240_F241insFs

c.720_721insCA

10 papers

NM_000314.8

p.F241insFs

c.723dupT

18 papers

NM_000314.8

p.F241_E242insFs

c.723_724insTT

19 papers

NM_000314.8

p.Y240*

c.720C>G

3 papers

NM_000314.8

p.Y240Y

c.720C>T

3 papers

NM_000314.8

p.F241delFs

c.721delT

2 papers

NM_000314.8

p.F241delFs

c.721_722delTT

2 papers

NM_000314.8

p.Y240fs

c.718_719fs

1 paper

NM_000314.8

p.Y240fs

c.718_719fs