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

63 papers

NM_000314.8

p.D24G

c.71A>G

Surrounding Variants

7 papers

NM_000314.8

p.D24A

c.71A>C

19 papers

NM_000314.8

p.D24V

c.71A>T

11 papers

NM_000314.8

p.D24E

c.72C>A

1 paper

NM_000314.8

p.D24_L25ins1

c.72_73insAGA

1 paper

NM_000314.8

p.L25insFs

c.74dupT

12 papers

NM_000314.8

p.D24E

c.72C>G

2 papers

NM_000314.8

p.D24D

c.72C>T

1 paper

NM_000314.8

p.L25delFs

c.73delT

4 papers

NM_000314.8

p.L25delFs

c.73_74delTT

1 paper

NM_000314.8

p.L25del1

c.73_74delTTG

20 papers

NM_000314.8

p.D24N

c.70G>A

38 papers

NM_000314.8

p.D24H

c.70G>C