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

7 papers

NM_000314.8

p.L70H

c.209T>A

Surrounding Variants

28 papers

NM_000314.8

p.L70P

c.209T>C

4 papers

NM_000314.8

p.L70R

c.209T>G

6 papers

NM_000314.8

p.L70I

c.208C>A

1 paper

NM_000314.8

p.L70insFs

c.208_209insGT

1 paper

NM_000314.8

p.L70_C71insA

c.208_212ins3

1 paper

NM_000314.8

p.L70insFs

c.209dupT

15 papers

NM_000314.8

p.L70V

c.208C>G

8 papers

NM_000314.8

p.L70F

c.208C>T

1 paper

NM_000314.8

p.L70delFs

c.209delT

2 papers

NM_000314.8

p.L70fs

c.208_209fs

8 papers

NM_000314.8

p.L70Splc

c.209+1G>A

8 papers

NM_000314.8

p.L70Splc

c.209+1G>C