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

3 papers

NM_000314.8

p.Y46S

c.137A>C

Surrounding Variants

6 papers

NM_000314.8

p.Y46C

c.137A>G

6 papers

NM_000314.8

p.Y46F

c.137A>T

1 paper

NM_000314.8

p.Y46delFs

c.138delC

10 papers

NM_000314.8

p.Y46*

c.138C>A

12 papers

NM_000314.8

p.Y46*

c.138C>G

1 paper

NM_000314.8

p.Y46Y

c.138C>T

3 papers

NM_000314.8

p.Y46N

c.136T>A

10 papers

NM_000314.8

p.Y46H

c.136T>C

4 papers

NM_000314.8

p.Y46D

c.136T>G

1 paper

NM_000314.8

p.Y46ins1

c.137_138insCAA

2 papers

NM_000314.8

p.Y46fs

c.136_137fs

2 papers

NM_000314.8

p.Y46_R47insA

c.136_140ins3