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.R15_Q17delFs

c.44_50del7

Surrounding Variants

6 papers

NM_000314.8

p.R14S

c.42G>C

1 paper

NM_000314.8

p.R14_R15insFs

c.42_43insGA

5 papers

NM_000314.8

p.R14S

c.42G>T

4 papers

NM_000314.8

p.R15delFs

c.43delA

4 papers

NM_000314.8

p.R15del1

c.43_44delAGA

1 paper

NM_000314.8

p.R15_Y16delFs

c.43_46del4

8 papers

NM_000314.8

p.R15fs

c.43_44fs

1 paper

NM_000314.8

p.R15_Y16insG

c.43_47ins3

8 papers

NM_000314.8

p.R15G

c.43A>G

9 papers

NM_000314.8

p.R15*

c.43A>T

6 papers

NM_000314.8

p.R15fs

c.43_44fs

8 papers

NM_000314.8

p.R14K

c.41G>A