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.D310Y

c.928G>T

Surrounding Variants

1 paper

NM_000314.8

p.D310N

c.928G>A

4 papers

NM_000314.8

p.D310fs

c.928_929fs

1 paper

NM_000314.8

p.D310delFs

c.929delA

1 paper

NM_000314.8

p.D310_N311delFs

c.930_931delTA

1 paper

NM_000314.8

p.D310fs

c.928_929fs

1 paper

NM_000314.8

p.D310insFs

c.930dupT

14 papers

NM_000314.8

p.D310G

c.929A>G

1 paper

NM_000314.8

p.D310_L318del9

c.928_953del27

1 paper

NM_000314.8

p.D310_V317delFs

c.930_949del20

1 paper

NM_000314.8

p.A309_N311insFs

c.927_933dup7

3 papers

NM_000314.8

p.A309V

c.926C>T

1 paper

NM_000314.8

p.N311_D312insFs

c.932_935dup4