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

16 papers

NM_000314.8

p.A126P

c.376G>C

Surrounding Variants

48 papers

NM_000314.8

p.A126T

c.376G>A

2 papers

NM_000314.8

p.A126fs

c.376_377fs

18 papers

NM_000314.8

p.A126S

c.376G>T

1 paper

NM_000314.8

p.A126delFs

c.377delC

1 paper

NM_000314.8

p.A126fs

c.376_377fs

1 paper

NM_000314.8

p.K125_A126ins1

c.375_376insGTC

15 papers

NM_000314.8

p.K125N

c.375A>C

15 papers

NM_000314.8

p.K125N

c.375A>T

21 papers

NM_000314.8

p.A126D

c.377C>A

20 papers

NM_000314.8

p.A126G

c.377C>G

29 papers

NM_000314.8

p.A126V

c.377C>T

1 paper

NM_000314.8

p.A126delFs

c.378delT