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

4 papers

NM_000314.8

p.K144T

c.431A>C

Surrounding Variants

4 papers

NM_000314.8

p.K144R

c.431A>G

2 papers

NM_000314.8

p.K144I

c.431A>T

1 paper

NM_000314.8

p.K144_F145insFs

c.432_433insG

3 papers

NM_000314.8

p.K144fs

c.430_431fs

1 paper

NM_000314.8

p.K144_F145ins5

c.430_434ins15

4 papers

NM_000314.8

p.L146insFs

c.437dupT

3 papers

NM_000314.8

p.K144N

c.432A>C

2 papers

NM_000314.8

p.K144Q

c.430A>C

6 papers

NM_000314.8

p.K144*

c.430A>T

3 papers

NM_000314.8

p.K144N

c.432A>T

2 papers

NM_000314.8

p.F145delFs

c.433delT

1 paper

NM_000314.8

p.G143G

c.429C>T