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

43 papers

NM_000314.8

p.M35V

c.103A>G

Surrounding Variants

1 paper

NM_000314.8

p.M35fs

c.103_104fs

1 paper

NM_000314.8

p.M35_G36insGGC

c.103_107ins9

5 papers

NM_000314.8

p.M35L

c.103A>C

5 papers

NM_000314.8

p.M35L

c.103A>T

4 papers

NM_000314.8

p.M35K

c.104T>A

14 papers

NM_000314.8

p.M35T

c.104T>C

25 papers

NM_000314.8

p.M35R

c.104T>G

1 paper

NM_000314.8

p.A34A

c.102T>G

2 papers

NM_000314.8

p.G36delFs

c.107delG

21 papers

NM_000314.8

p.A34D

c.101C>A

7 papers

NM_000314.8

p.A34G

c.101C>G

8 papers

NM_000314.8

p.A34V

c.101C>T