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

11 papers

NM_000314.8

p.L23*

c.68T>A

Surrounding Variants

7 papers

NM_000314.8

p.L23S

c.68T>C

8 papers

NM_000314.8

p.L23*

c.68T>G

6 papers

NM_000314.8

p.L23insFs

c.69dupA

1 paper

NM_000314.8

p.L23insFs

c.68_69insG

2 papers

NM_000314.8

p.D24delFs

c.70_71delGA

1 paper

NM_000314.8

p.L23_D24insFs

c.69_70insC

15 papers

NM_000314.8

p.L23F

c.69A>C

1 paper

NM_000314.8

p.L23L

c.69A>G

14 papers

NM_000314.8

p.L23F

c.69A>T

1 paper

NM_000314.8

p.L23_L25Fs

c.69_73delinsGTCFs

1 paper

NM_000314.8

p.L23I

c.67T>A

1 paper

NM_000314.8

p.L23L

c.67T>C