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

1 paper

NM_000314.8

p.Q110_W111ins8

c.328_332ins24

Surrounding Variants

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

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

2 papers

NM_000314.8

p.Q110fs

c.328_329fs

2 papers

NM_000314.8

p.Q110P

c.329A>C

5 papers

NM_000314.8

p.Q110R

c.329A>G

2 papers

NM_000314.8

p.Q110L

c.329A>T

1 paper

NM_000314.8

p.Q110_W111delFs

c.330_331delAT

2 papers

NM_000314.8

p.D109D

c.327C>T