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

1 paper

NM_000314.8

p.K221E

c.661A>G

Surrounding Variants

1 paper

NM_000314.8

p.K221fs

c.661_662fs

5 papers

NM_000314.8

p.K221*

c.661A>T

1 paper

NM_000314.8

p.K221fs

c.661_662fs

1 paper

NM_000314.8

p.L220L

c.660A>C

4 papers

NM_000314.8

p.K221R

c.662A>G

2 papers

NM_000314.8

p.K221_V222insFs

c.663_664ins4

4 papers

NM_000314.8

p.L220P

c.659T>C

2 papers

NM_000314.8

p.K221delFs

c.662delA

1 paper

NM_000314.8

p.K221_G230del0

c.661_690del30

1 paper

NM_000314.8

p.L220insFs

c.659dupT

5 papers

NM_000314.8

p.L220V

c.658C>G

1 paper

NM_000314.8

p.L220L

c.658C>T