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

3 papers

NM_000314.8

p.I28N

c.83T>A

Surrounding Variants

10 papers

NM_000314.8

p.I28T

c.83T>C

6 papers

NM_000314.8

p.I28S

c.83T>G

2 papers

NM_000314.8

p.I28insFs

c.83_84insA

2 papers

NM_000314.8

p.I28fs

c.82_83fs

1 paper

NM_000314.8

p.Y29insFs

c.85_86insT

2 papers

NM_000314.8

p.I28L

c.82A>C

3 papers

NM_000314.8

p.I28V

c.82A>G

3 papers

NM_000314.8

p.I28F

c.82A>T

1 paper

NM_000314.8

p.Y29delFs

c.85delT

3 papers

NM_000314.8

p.I28fs

c.82_83fs

4 papers

NM_000314.8

p.I28M

c.84T>G

1 paper

NM_000314.8

p.I28_Y29insFs

c.84_85insA