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.C296C

c.888T>C

Surrounding Variants

7 papers

NM_000314.8

p.C296*

c.888T>A

1 paper

NM_000314.8

p.D297delFs

c.889delG

3 papers

NM_000314.8

p.D297N

c.889G>A

1 paper

NM_000314.8

p.D297H

c.889G>C

2 papers

NM_000314.8

p.D297fs

c.889_890fs

1 paper

NM_000314.8

p.D297_Q298insA

c.889_893ins3

5 papers

NM_000314.8

p.D297Y

c.889G>T

1 paper

NM_000314.8

p.D297delFs

c.890delA

3 papers

NM_000314.8

p.D297fs

c.889_890fs

1 paper

NM_000314.8

p.C296delFs

c.888delT

1 paper

NM_000314.8

p.D297A

c.890A>C

1 paper

NM_000314.8

p.D297delFs

c.891delT