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

61 papers

NM_000314.8

p.K13E

c.37A>G

NM_001304717.5

p.K186E

c.556A>G

Surrounding Variants

3 papers

NM_000314.8

p.K13fs

c.37_38fs

6 papers

NM_000314.8

p.K13Q

c.37A>C

7 papers

NM_000314.8

p.K13*

c.37A>T

1 paper

NM_000314.8

p.K13insFs

c.38_39insC

2 papers

NM_000314.8

p.K13insFs

c.38_39insG

9 papers

NM_000314.8

p.K13T

c.38A>C

23 papers

NM_000314.8

p.K13R

c.38A>G

2 papers

NM_000314.8

p.K13I

c.38A>T

1 paper

NM_000314.8

p.K13_R14del1

c.39_41delAAG

2 papers

NM_000314.8

p.R14_E18delFs

c.42_52del11

2 papers

NM_000314.8

p.N12K

c.36C>A

8 papers

NM_000314.8

p.R14insFs

c.40dupA