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

14 papers

NM_000314.8

p.L70Splc

c.209+1G>T

Surrounding Variants

8 papers

NM_000314.8

p.L70Splc

c.209+1G>A

8 papers

NM_000314.8

p.L70Splc

c.209+1G>C

7 papers

NM_000314.8

p.L70H

c.209T>A

3 papers

NM_000314.8

p.L70Splc

c.209+2T>A

28 papers

NM_000314.8

p.L70P

c.209T>C

3 papers

NM_001304717.5

p.L243Splc

c.728+2T>C

NM_000314.8

p.L70Splc

c.209+2T>C

4 papers

NM_000314.8

p.L70R

c.209T>G

1 paper

NM_000314.8

p.L70Splc

c.209+2T>G

1 paper

NM_000314.8

p.L70Splc

c.209+3A>C

3 papers

NM_000314.8

p.L70Splc

c.209+3A>T

6 papers

NM_000314.8

p.L70I

c.208C>A

1 paper

NM_000314.8

p.L70insFs

c.208_209insGT