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.E18V

c.53A>T

Surrounding Variants

1 paper

NM_000314.8

p.D19insFs

c.55dupG

1 paper

NM_000314.8

p.G20_F21insFs

c.58_61dup4

5 papers

NM_000314.8

p.E18A

c.53A>C

4 papers

NM_000314.8

p.E18G

c.53A>G

1 paper

NM_000314.8

p.D19delFs

c.55delG

3 papers

NM_000314.8

p.E18K

c.52G>A

2 papers

NM_000314.8

p.E18D

c.54G>C

1 paper

NM_000314.8

p.E18Q

c.52G>C

6 papers

NM_000314.8

p.E18fs

c.52_53fs

2 papers

NM_000314.8

p.E18_D19insGCG

c.52_56ins9

3 papers

NM_000314.8

p.E18*

c.52G>T

2 papers

NM_000314.8

p.E18D

c.54G>T