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

3 papers

NM_000314.8

p.C250*

c.750T>A

Surrounding Variants

2 papers

NM_000314.8

p.C250W

c.750T>G

2 papers

NM_000314.8

p.G251delFs

c.751_752delGG

6 papers

NM_000314.8

p.C250Y

c.749G>A

2 papers

NM_000314.8

p.G251S

c.751G>A

3 papers

NM_000314.8

p.G251fs

c.751_752fs

1 paper

NM_000314.8

p.C250insFs

c.750dupT

1 paper

NM_000314.8

p.C250_V255insFs

c.750_765dup16

23 papers

NM_000314.8

p.G251C

c.751G>T

2 papers

NM_000314.8

p.C250F

c.749G>T

2 papers

NM_000314.8

p.G251fs

c.751_752fs

1 paper

NM_000314.8

p.D252_V255delFs

c.754_764del11

1 paper

NM_000314.8

p.C250delFs

c.750delT