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

2 papers

NM_000314.8

p.E201Q

c.601G>C

Surrounding Variants

4 papers

NM_000314.8

p.E201K

c.601G>A

1 paper

NM_000314.8

p.T202insFs

c.604dupA

1 paper

NM_000314.8

p.E201fs

c.601_602fs

1 paper

NM_000314.8

p.E201insFs

c.601_602insTT

11 papers

NM_000314.8

p.E201*

c.601G>T

3 papers

NM_000314.8

p.T202delFs

c.604delA

1 paper

NM_000314.8

p.E201fs

c.601_602fs

1 paper

NM_000314.8

p.F200L

c.600T>A

1 paper

NM_000314.8

p.F200F

c.600T>C

1 paper

NM_000314.8

p.F200L

c.600T>G

2 papers

NM_000314.8

p.T202_I203del2

c.604_608del6

1 paper

NM_000314.8

p.T202_G208delFs

c.604_622del19