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

2 papers

NM_000314.8

p.D109D

c.327C>T

Surrounding Variants

2 papers

NM_000314.8

p.D109_Q110insFs

c.327_328insC

2 papers

NM_000314.8

p.D109A

c.326A>C

4 papers

NM_000314.8

p.D109G

c.326A>G

1 paper

NM_000314.8

p.D109V

c.326A>T

1 paper

NM_000314.8

p.Q110delFs

c.328delC

2 papers

NM_000314.8

p.Q110K

c.328C>A

3 papers

NM_000314.8

p.Q110fs

c.328_329fs

1 paper

NM_000314.8

p.Q110_W111ins6

c.328_332ins18

1 paper

NM_000314.8

p.Q110_W111ins8

c.328_332ins24

8 papers

NM_000314.8

p.Q110E

c.328C>G

28 papers

NM_000314.8

p.Q110*

c.328C>T

2 papers

NM_000314.8

p.Q110delFs

c.330delA