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

25 papers

NM_000314.8

p.E157K

c.469G>A

Surrounding Variants

1 paper

NM_000314.8

p.E157Q

c.469G>C

8 papers

NM_000314.8

p.E157fs

c.469_470fs

34 papers

NM_000314.8

p.E157*

c.469G>T

6 papers

NM_000314.8

p.E157fs

c.469_470fs

1 paper

NM_000314.8

p.V158_R159delFs

c.473_476del4

2 papers

NM_000314.8

p.E157insFs

c.470_471insG

1 paper

NM_000314.8

p.E157A

c.470A>C

23 papers

NM_000314.8

p.E157G

c.470A>G

2 papers

NM_000314.8

p.G156G

c.468G>A

1 paper

NM_000314.8

p.G156G

c.468G>T

1 paper

NM_000314.8

p.E157_T160delFs

c.469_478del10

2 papers

NM_000314.8

p.G156E

c.467G>A