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

3 papers

NM_000314.8

p.L100L

c.300T>G

Surrounding Variants

6 papers

NM_000314.8

p.I101insFs

c.301dupA

1 paper

NM_000314.8

p.L100_I101insFs

c.300_301insTG

5 papers

NM_000314.8

p.I101_K102del1

c.302_304delTCA

7 papers

NM_000314.8

p.I101fs

c.301_302fs

1 paper

NM_000314.8

p.I101V

c.301A>G

3 papers

NM_000314.8

p.I101F

c.301A>T

6 papers

NM_000314.8

p.I101delFs

c.302delT

1 paper

NM_000314.8

p.I101delins

c.301_302delinsCA

7 papers

NM_000314.8

p.I101fs

c.301_302fs

1 paper

NM_000314.8

p.L100H

c.299T>A

5 papers

NM_000314.8

p.L100P

c.299T>C

2 papers

NM_000314.8

p.L100R

c.299T>G