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

17 papers

NM_000314.8

p.R189*

c.565A>T

Surrounding Variants

1 paper

NM_000314.8

p.R189insFs

c.566dupG

3 papers

NM_000314.8

p.R189K

c.566G>A

1 paper

NM_000314.8

p.R189T

c.566G>C

1 paper

NM_000314.8

p.P190del1

c.568_569delCCA

7 papers

NM_000314.8

p.Y188*

c.564T>A

6 papers

NM_000314.8

p.Y188*

c.564T>G

5 papers

NM_000314.8

p.R189delFs

c.565delA

3 papers

NM_000314.8

p.P190insFs

c.568_569insC

3 papers

NM_000314.8

p.Y188S

c.563A>C

3 papers

NM_000314.8

p.Y188C

c.563A>G

1 paper

NM_000314.8

p.Y188F

c.563A>T

3 papers

NM_000314.8

p.P190delFs

c.569delC