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.V45_Y46insGA

c.133_137ins6

Surrounding Variants

14 papers

NM_000314.8

p.V45I

c.133G>A

3 papers

NM_000314.8

p.V45L

c.133G>C

6 papers

NM_000314.8

p.V45fs

c.133_134fs

1 paper

NM_000314.8

p.V45_Y46insT

c.133_137ins3

5 papers

NM_000314.8

p.V45L

c.133G>T

1 paper

NM_000314.8

p.V45delFs

c.134delT

2 papers

NM_000314.8

p.Y46delFs

c.136_137delTA

4 papers

NM_000314.8

p.V45fs

c.133_134fs

1 paper

NM_000314.8

p.V45_N49delFs

c.134_146del13

13 papers

NM_000314.8

p.G44G

c.132C>T

6 papers

NM_000314.8

p.V45delFs

c.133delG

5 papers

NM_000314.8

p.V45E

c.134T>A