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

3 papers

NM_000314.8

p.D236fs

c.706_707fs

Surrounding Variants

7 papers

NM_000314.8

p.D236N

c.706G>A

3 papers

NM_000314.8

p.D236H

c.706G>C

2 papers

NM_000314.8

p.D236fs

c.706_707fs

1 paper

NM_000314.8

p.D236_K237delFs

c.707_710del4

1 paper

NM_000314.8

p.D236_Y240delFs

c.707_720del14

1 paper

NM_000314.8

p.E235_D236insFs

c.705_706ins10

1 paper

NM_000314.8

p.D236A

c.707A>C

4 papers

NM_000314.8

p.D236G

c.707A>G

1 paper

NM_000314.8

p.E235A

c.704A>C

2 papers

NM_000314.8

p.E235G

c.704A>G

1 paper

NM_000314.8

p.D236E

c.708C>A

1 paper

NM_000314.8

p.K237insFs

c.710dupA