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

4 papers

NM_000314.8

p.N212fs

c.634_635fs

Surrounding Variants

1 paper

NM_000314.8

p.N212insFs

c.636dupT

2 papers

NM_000314.8

p.N212delFs

c.636delT

18 papers

NM_000314.8

p.N212Splc

c.635-1G>A

19 papers

NM_000314.8

p.N212Splc

c.635-1G>C

11 papers

NM_000314.8

p.N212Splc

c.635-1G>T

6 papers

NM_000314.8

p.P213delFs

c.638delC

1 paper

NM_000314.8

p.N212Splc

c.635-2A>C

3 papers

NM_000314.8

p.N212Splc

c.635-2A>G

7 papers

NM_000314.8

p.P213fs

c.637_638fs

1 paper

NM_000314.8

p.P213_Q214insT

c.637_641ins3

13 papers

NM_000314.8

p.P213S

c.637C>T

5 papers

NM_000314.8

p.P213fs

c.637_638fs