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

51 papers

NM_000314.8

p.Q17*

c.49C>T

Surrounding Variants

1 paper

NM_000314.8

p.Q17K

c.49C>A

4 papers

NM_000314.8

p.Q17insFs

c.50dupA

6 papers

NM_000314.8

p.Q17fs

c.49_50fs

1 paper

NM_000314.8

p.Q17_E18insGCG

c.49_53ins9

6 papers

NM_000314.8

p.Q17E

c.49C>G

1 paper

NM_000314.8

p.Q17delFs

c.50delA

6 papers

NM_000314.8

p.Q17delFs

c.50_51delAA

4 papers

NM_000314.8

p.Q17fs

c.49_50fs

3 papers

NM_000314.8

p.Q17P

c.50A>C

3 papers

NM_000314.8

p.Q17R

c.50A>G

1 paper

NM_000314.8

p.Q17L

c.50A>T

1 paper

NM_000314.8

p.Q17_E18delFs

c.51_52delAG