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.W111fs

c.331_332fs

Surrounding Variants

23 papers

NM_000314.8

p.W111R

c.331T>A

26 papers

NM_000314.8

p.W111R

c.331T>C

4 papers

NM_000314.8

p.W111G

c.331T>G

2 papers

NM_000314.8

p.Q110H

c.330A>C

1 paper

NM_000314.8

p.Q110Q

c.330A>G

2 papers

NM_000314.8

p.Q110H

c.330A>T

23 papers

NM_000314.8

p.W111*

c.332G>A

4 papers

NM_000314.8

p.W111S

c.332G>C

1 paper

NM_000314.8

p.W111insFs

c.332_333insT

2 papers

NM_000314.8

p.W111L

c.332G>T

2 papers

NM_000314.8

p.Q110P

c.329A>C

5 papers

NM_000314.8

p.Q110R

c.329A>G