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.F215L

c.643T>C

Surrounding Variants

2 papers

NM_000314.8

p.F215fs

c.643_644fs

3 papers

NM_000314.8

p.F215fs

c.643_644fs

2 papers

NM_000314.8

p.Q214H

c.642G>C

3 papers

NM_000314.8

p.F215insFs

c.645dupT

2 papers

NM_000314.8

p.Q214H

c.642G>T

2 papers

NM_000314.8

p.F215S

c.644T>C

2 papers

NM_000314.8

p.F215C

c.644T>G

1 paper

NM_000314.8

p.F215_V216delFs

c.645_646delTG

1 paper

NM_000314.8

p.Q214P

c.641A>C

3 papers

NM_000314.8

p.Q214R

c.641A>G

1 paper

NM_000314.8

p.Q214L

c.641A>T

1 paper

NM_000314.8

p.Q214delFs

c.642delG