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

77 papers

NM_000314.8

p.Q214*

c.640C>T

Surrounding Variants

1 paper

NM_000314.8

p.Q214K

c.640C>A

3 papers

NM_000314.8

p.Q214insFs

c.641dupA

7 papers

NM_000314.8

p.Q214fs

c.640_641fs

2 papers

NM_000314.8

p.Q214delFs

c.641delA

2 papers

NM_000314.8

p.Q214fs

c.640_641fs

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

6 papers

NM_000314.8

p.P213H

c.638C>A

2 papers

NM_000314.8

p.P213R

c.638C>G

4 papers

NM_000314.8

p.P213L

c.638C>T