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.Q149fs

c.445_446fs

Surrounding Variants

2 papers

NM_000314.8

p.Q149K

c.445C>A

3 papers

NM_000314.8

p.Q149insFs

c.445_446insA

1 paper

NM_000314.8

p.Q149fs

c.445_446fs

1 paper

NM_000314.8

p.Q149_E150ins9

c.445_449ins27

1 paper

NM_000314.8

p.Q149E

c.445C>G

32 papers

NM_000314.8

p.Q149*

c.445C>T

1 paper

NM_000314.8

p.Q149delFs

c.447delA

1 paper

NM_000314.8

p.A148A

c.444A>C

1 paper

NM_000314.8

p.Q149P

c.446A>C

2 papers

NM_000314.8

p.Q149R

c.446A>G

1 paper

NM_000314.8

p.Q149_E150insFs

c.447_448insC

1 paper

NM_000314.8

p.Q149Q

c.447A>G