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.F195_H196insFs

c.585_586dupTC

Surrounding Variants

1 paper

NM_000314.8

p.F195Y

c.584T>A

7 papers

NM_000314.8

p.F195S

c.584T>C

3 papers

NM_000314.8

p.F195I

c.583T>A

1 paper

NM_000314.8

p.F195L

c.585T>A

1 paper

NM_000314.8

p.F195L

c.583T>C

1 paper

NM_000314.8

p.F195L

c.585T>G

6 papers

NM_000314.8

p.H196delFs

c.586delC

1 paper

NM_000314.8

p.F195_H196delFs

c.584_587del4

1 paper

NM_000314.8

p.H196N

c.586C>A

7 papers

NM_000314.8

p.H196fs

c.586_587fs

1 paper

NM_000314.8

p.H196insFs

c.586_587insT

7 papers

NM_000314.8

p.H196Y

c.586C>T