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.Y46insFs

c.136_137insT

Surrounding Variants

1 paper

NM_000314.8

p.V45V

c.135A>G

5 papers

NM_000314.8

p.V45E

c.134T>A

3 papers

NM_000314.8

p.Y46N

c.136T>A

10 papers

NM_000314.8

p.Y46H

c.136T>C

5 papers

NM_000314.8

p.V45A

c.134T>C

4 papers

NM_000314.8

p.Y46D

c.136T>G

2 papers

NM_000314.8

p.V45G

c.134T>G

1 paper

NM_000314.8

p.Y46ins1

c.137_138insCAA

1 paper

NM_000314.8

p.Y46_R47insFs

c.136_139dup4

2 papers

NM_000314.8

p.Y46fs

c.136_137fs

2 papers

NM_000314.8

p.Y46_R47insA

c.136_140ins3

3 papers

NM_000314.8

p.Y46fs

c.136_137fs