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

4 papers

NM_000314.8

p.N12D

c.34A>G

Surrounding Variants

1 paper

NM_000314.8

p.N12insFs

c.34_35ins4

2 papers

NM_000314.8

p.N12fs

c.34_35fs

3 papers

NM_000314.8

p.N12H

c.34A>C

8 papers

NM_000314.8

p.N12Y

c.34A>T

3 papers

NM_000314.8

p.N12_K13delFs

c.36_37delCA

4 papers

NM_000314.8

p.N12fs

c.34_35fs

1 paper

NM_000314.8

p.N12_K13insFs

c.36_37insC

1 paper

NM_000314.8

p.N12ins1

c.35_36insGGC

9 papers

NM_000314.8

p.N12T

c.35A>C

3 papers

NM_000314.8

p.R11S

c.33A>C

3 papers

NM_000314.8

p.N12S

c.35A>G

1 paper

NM_000314.8

p.R11R

c.33A>G