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

8 papers

NM_000314.8

p.C124W

c.372T>G

Surrounding Variants

1 paper

NM_000314.8

p.C124*

c.372T>A

2 papers

NM_000314.8

p.K125insFs

c.375dupA

2 papers

NM_000314.8

p.K125delFs

c.375delA

2 papers

NM_000314.8

p.K125fs

c.373_374fs

6 papers

NM_000314.8

p.K125Q

c.373A>C

28 papers

NM_000314.8

p.K125E

c.373A>G

4 papers

NM_000314.8

p.K125*

c.373A>T

2 papers

NM_000314.8

p.K125fs

c.373_374fs

26 papers

NM_000314.8

p.C124Y

c.371G>A

421 papers

NM_000314.8

p.C124S

c.371G>C

9 papers

NM_000314.8

p.C124F

c.371G>T

2 papers

NM_000314.8

p.K125_A126insFs

c.375_376ins4