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

40 papers

NM_000314.8

p.N48K

c.144C>G

Surrounding Variants

40 papers

NM_000314.8

p.N48K

c.144C>A

2 papers

NM_000314.8

p.N49insFs

c.146dupA

1 paper

NM_000314.8

p.N48_N49insFs

c.144_145ins5

2 papers

NM_000314.8

p.N49del1

c.145_146delAAT

2 papers

NM_000314.8

p.N49fs

c.145_146fs

1 paper

NM_000314.8

p.N49_I50insA

c.145_149ins3

2 papers

NM_000314.8

p.N48T

c.143A>C

1 paper

NM_000314.8

p.N49H

c.145A>C

8 papers

NM_000314.8

p.N48S

c.143A>G

1 paper

NM_000314.8

p.N49D

c.145A>G

9 papers

NM_000314.8

p.N48I

c.143A>T

1 paper

NM_000314.8

p.N49Y

c.145A>T