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

44 papers

NM_000314.8

p.C71Y

c.212G>A

Surrounding Variants

11 papers

NM_000314.8

p.C71S

c.212G>C

1 paper

NM_000314.8

p.C71_A72insFs

c.213_214insT

9 papers

NM_000314.8

p.C71F

c.212G>T

11 papers

NM_000314.8

p.C71S

c.211T>A

3 papers

NM_000314.8

p.C71*

c.213T>A

1 paper

NM_000314.8

p.C71R

c.211T>C

5 papers

NM_000314.8

p.C71W

c.213T>G

1 paper

NM_000314.8

p.C71G

c.211T>G

6 papers

NM_000314.8

p.C71fs

c.211_212fs

3 papers

NM_000314.8

p.C71fs

c.211_212fs

5 papers

NM_000314.8

p.A72T

c.214G>A

4 papers

NM_000314.8

p.A72P

c.214G>C