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.K260Q

c.778A>C

Surrounding Variants

1 paper

NM_000314.8

p.K260insFs

c.778_779insG

3 papers

NM_000314.8

p.K260fs

c.778_779fs

2 papers

NM_000314.8

p.K260E

c.778A>G

4 papers

NM_000314.8

p.K260*

c.778A>T

3 papers

NM_000314.8

p.K260fs

c.778_779fs

1 paper

NM_000314.8

p.K260T

c.779A>C

8 papers

NM_000314.8

p.K260R

c.779A>G

1 paper

NM_000314.8

p.K260I

c.779A>T

1 paper

NM_000314.8

p.H259Q

c.777C>A

1 paper

NM_000314.8

p.H259_K260insFs

c.777_778insA

2 papers

NM_000314.8

p.K260delFs

c.780delA

1 paper

NM_000314.8

p.K260delFs

c.779_780delAA