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

30 papers

NM_000314.8

p.R15K

c.44G>A

NM_001304717.5

p.R188K

c.563G>A

Surrounding Variants

9 papers

NM_000314.8

p.R15T

c.44G>C

1 paper

NM_000314.8

p.Y16insFs

c.47_48dupAT

24 papers

NM_001304717.5

p.R188I

c.563G>T

NM_000314.8

p.R15I

c.44G>T

5 papers

NM_000314.8

p.Y16_Q17del2

c.46_50del6

1 paper

NM_000314.8

p.R15_D19del0

c.45_56del12

8 papers

NM_000314.8

p.R15fs

c.43_44fs

1 paper

NM_000314.8

p.R15_Y16insG

c.43_47ins3

10 papers

NM_000314.8

p.Y16insFs

c.46dupT

48 papers

NM_001304717.5

p.R188S

c.564A>C

NM_000314.8

p.R15S

c.45A>C

8 papers

NM_000314.8

p.R15G

c.43A>G

45 papers

NM_001304717.5

p.R188S

c.564A>T

NM_000314.8

p.R15S

c.45A>T

9 papers

NM_000314.8

p.R15*

c.43A>T