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.L98L

c.294A>G

Surrounding Variants

1 paper

NM_000314.8

p.E99_L100del2

c.295_299del6

9 papers

NM_000314.8

p.E99K

c.295G>A

2 papers

NM_000314.8

p.E99Q

c.295G>C

1 paper

NM_000314.8

p.E99_L100insFs

c.297_298insA

1 paper

NM_000314.8

p.E99insFs

c.296_297insTA

2 papers

NM_000314.8

p.E99fs

c.295_296fs

1 paper

NM_000314.8

p.E99_L100insT

c.295_299ins3

12 papers

NM_000314.8

p.E99*

c.295G>T

2 papers

NM_000314.8

p.E99delFs

c.297delA

3 papers

NM_000314.8

p.E99fs

c.295_296fs

1 paper

NM_000314.8

p.L100_K102delFs

c.298_305del8

1 paper

NM_000314.8

p.E99_K102delFs

c.296_305del10