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

1 paper

NM_000314.8

p.D24insFs

c.70_71insC

Surrounding Variants

20 papers

NM_000314.8

p.D24N

c.70G>A

38 papers

NM_000314.8

p.D24H

c.70G>C

1 paper

NM_000314.8

p.D24insFs

c.70_71insA

7 papers

NM_000314.8

p.D24fs

c.70_71fs

34 papers

NM_000314.8

p.D24Y

c.70G>T

3 papers

NM_000314.8

p.D24fs

c.70_71fs

1 paper

NM_000314.8

p.L23_D24insFs

c.69_70insC

15 papers

NM_000314.8

p.L23F

c.69A>C

7 papers

NM_000314.8

p.D24A

c.71A>C

63 papers

NM_000314.8

p.D24G

c.71A>G

1 paper

NM_000314.8

p.L23L

c.69A>G

19 papers

NM_000314.8

p.D24V

c.71A>T