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

5 papers

NM_000314.8

p.K13_R14delFs

c.39_40delAA

Surrounding Variants

2 papers

NM_000314.8

p.N12K

c.36C>A

8 papers

NM_000314.8

p.R14insFs

c.40dupA

1 paper

NM_000314.8

p.N12K

c.36C>G

4 papers

NM_000314.8

p.K13delFs

c.37delA

1 paper

NM_000314.8

p.K13del1

c.37_38delAAA

1 paper

NM_000314.8

p.K13_Q17del0

c.37_51del15

1 paper

NM_000314.8

p.N12_K13insFs

c.36_37insC

1 paper

NM_000314.8

p.N12ins1

c.35_36insGGC

3 papers

NM_000314.8

p.K13fs

c.37_38fs

9 papers

NM_000314.8

p.N12T

c.35A>C

6 papers

NM_000314.8

p.K13Q

c.37A>C

61 papers

NM_000314.8

p.K13E

c.37A>G

NM_001304717.5

p.K186E

c.556A>G