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.F257fs

c.769_770fs

Surrounding Variants

10 papers

NM_000314.8

p.F257L

c.769T>C

1 paper

NM_000314.8

p.F257fs

c.769_770fs

1 paper

NM_000314.8

p.F257_F258delFs

c.771_772delCT

1 paper

NM_000314.8

p.E256E

c.768G>A

1 paper

NM_000314.8

p.E256D

c.768G>C

3 papers

NM_000314.8

p.F257Y

c.770T>A

7 papers

NM_000314.8

p.F257S

c.770T>C

1 paper

NM_000314.8

p.E256insFs

c.768dupG

3 papers

NM_000314.8

p.E256A

c.767A>C

2 papers

NM_000314.8

p.E256G

c.767A>G

1 paper

NM_000314.8

p.E256V

c.767A>T

9 papers

NM_000314.8

p.F257L

c.771C>A