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

2 papers

NM_000314.8

p.V45G

c.134T>G

Surrounding Variants

5 papers

NM_000314.8

p.V45E

c.134T>A

5 papers

NM_000314.8

p.V45A

c.134T>C

1 paper

NM_000314.8

p.Y46_R47insFs

c.136_139dup4

1 paper

NM_000314.8

p.Y46_I50delFs

c.138_148del11

1 paper

NM_000314.8

p.Y46insFs

c.136_137insT

1 paper

NM_000314.8

p.V45V

c.135A>G

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

1 paper

NM_000314.8

p.V45_Y46insGA

c.133_137ins6

5 papers

NM_000314.8

p.V45L

c.133G>T