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

18 papers

NM_000314.8

p.K342N

c.1026G>T

Surrounding Variants

2 papers

NM_000314.8

p.K342K

c.1026G>A

20 papers

NM_000314.8

p.K342N

c.1026G>C

2 papers

NM_000314.8

p.K342T

c.1025A>C

4 papers

NM_000314.8

p.K342R

c.1025A>G

26 papers

NM_000314.8

p.K342_V343Splc

c.1026+1G>A

6 papers

NM_000314.8

p.K342_V343Splc

c.1026+1G>C

11 papers

NM_000314.8

p.K342_V343Splc

c.1026+1G>T

1 paper

NM_000314.8

p.K342fs

c.1024_1025fs

2 papers

NM_000314.8

p.K342E

c.1024A>G

2 papers

NM_000314.8

p.K342*

c.1024A>T

2 papers

NM_000314.8

p.K342_V343Splc

c.1026+2T>A

1 paper

NM_000314.8

p.K342_V343Splc

c.1026+2T>C