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.V249V

c.747G>T

Surrounding Variants

1 paper

NM_000314.8

p.C250_G251ins1

c.750_751insTGT

2 papers

NM_000314.8

p.V249E

c.746T>A

1 paper

NM_000314.8

p.C250S

c.748T>A

2 papers

NM_000314.8

p.V249A

c.746T>C

1 paper

NM_000314.8

p.C250R

c.748T>C

2 papers

NM_000314.8

p.V249G

c.746T>G

6 papers

NM_000314.8

p.C250fs

c.748_749fs

2 papers

NM_000314.8

p.C250fs

c.748_749fs

7 papers

NM_000314.8

p.V249M

c.745G>A

6 papers

NM_000314.8

p.C250Y

c.749G>A

1 paper

NM_000314.8

p.V249fs

c.745_746fs

1 paper

NM_000314.8

p.C250insFs

c.750dupT