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

2 papers

NM_000314.8

p.L152delFs

c.454delC

Surrounding Variants

6 papers

NM_000314.8

p.A151T

c.451G>A

4 papers

NM_000314.8

p.A151P

c.451G>C

1 paper

NM_000314.8

p.L152insFs

c.454_455insC

2 papers

NM_000314.8

p.A151fs

c.451_452fs

1 paper

NM_000314.8

p.A151fs

c.451_452fs

4 papers

NM_000314.8

p.A151D

c.452C>A

3 papers

NM_000314.8

p.A151G

c.452C>G

3 papers

NM_000314.8

p.A151V

c.452C>T

2 papers

NM_000314.8

p.L152_F154del3

c.454_461del9

4 papers

NM_000314.8

p.E150D

c.450G>C

3 papers

NM_000314.8

p.E150D

c.450G>T

1 paper

NM_000314.8

p.E150_D153insFs

c.450_457dup8