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

8 papers

NM_000314.8

p.R173S

c.517C>A

Surrounding Variants

4 papers

NM_000314.8

p.R173fs

c.517_518fs

4 papers

NM_000314.8

p.R173G

c.517C>G

217 papers

NM_000314.8

p.R173C

c.517C>T

1 paper

NM_000314.8

p.Y174_Y180del0

c.522_539del18

147 papers

NM_000314.8

p.R173H

c.518G>A

23 papers

NM_000314.8

p.R173P

c.518G>C

6 papers

NM_000314.8

p.R172S

c.516G>C

13 papers

NM_000314.8

p.R173L

c.518G>T

7 papers

NM_000314.8

p.R172S

c.516G>T

1 paper

NM_000314.8

p.R173delFs

c.517delC

8 papers

NM_000314.8

p.Y174insFs

c.520_521insT

2 papers

NM_000314.8

p.Y174_L182delFs

c.520_544del25