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.D324H

c.970G>C

Surrounding Variants

1 paper

NM_000314.8

p.D324N

c.970G>A

3 papers

NM_000314.8

p.D324fs

c.970_971fs

5 papers

NM_000314.8

p.D324Y

c.970G>T

4 papers

NM_000314.8

p.D324fs

c.970_971fs

1 paper

NM_000314.8

p.D324_K327del0

c.972_980del9

1 paper

NM_000314.8

p.D324insFs

c.971_972insAT

1 paper

NM_000314.8

p.D324insFs

c.972dupT

2 papers

NM_000314.8

p.D324G

c.971A>G

4 papers

NM_000314.8

p.D324delFs

c.972delT

4 papers

NM_000314.8

p.N323K

c.969T>A

3 papers

NM_000314.8

p.N323K

c.969T>G

1 paper

NM_000314.8

p.N323_D324insFs

c.969_970insA