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

4 papers

NM_000314.8

p.P89fs

c.265_266fs

Surrounding Variants

3 papers

NM_000314.8

p.P89T

c.265C>A

1 paper

NM_000314.8

p.P89A

c.265C>G

2 papers

NM_000314.8

p.P89S

c.265C>T

1 paper

NM_000314.8

p.P89delins

c.265_266delinsTT

1 paper

NM_000314.8

p.P89_F90delFs

c.266_269del4

4 papers

NM_000314.8

p.P89H

c.266C>A

2 papers

NM_000314.8

p.F90insFs

c.270dupT

1 paper

NM_000314.8

p.F90insFs

c.269_270dupTT

2 papers

NM_000314.8

p.P89R

c.266C>G

6 papers

NM_000314.8

p.P89L

c.266C>T

8 papers

NM_000314.8

p.P89delFs

c.267delT

1 paper

NM_000314.8

p.F90del1

c.268_269delTTT