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.M205fs

c.613_614fs

Surrounding Variants

15 papers

NM_000314.8

p.M205V

c.613A>G

1 paper

NM_000314.8

p.M205delFs

c.614delT

2 papers

NM_000314.8

p.M205fs

c.613_614fs

1 paper

NM_000314.8

p.F206_C211delFs

c.616_632del17

1 paper

NM_000314.8

p.P204_M205insFs

c.612_613insC

5 papers

NM_000314.8

p.M205T

c.614T>C

1 paper

NM_000314.8

p.M205R

c.614T>G

1 paper

NM_000314.8

p.F206_S207delFs

c.617_621del5

1 paper

NM_000314.8

p.P204Q

c.611C>A

1 paper

NM_000314.8

p.M205insFs

c.613_614insA

3 papers

NM_000314.8

p.P204R

c.611C>G

16 papers

NM_000314.8

p.P204L

c.611C>T