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

8 papers

NM_000314.8

p.K164N

c.492G>C

Surrounding Variants

1 paper

NM_000314.8

p.K164K

c.492G>A

8 papers

NM_000314.8

p.K164N

c.492G>T

1 paper

NM_000314.8

p.K164insFs

c.491_492insT

1 paper

NM_000314.8

p.K164T

c.491A>C

4 papers

NM_000314.8

p.K164R

c.491A>G

4 papers

NM_000314.8

p.K164delFs

c.492delG

6 papers

NM_000314.8

p.K164_G165Splc

c.492+1G>A

5 papers

NM_000314.8

p.K164_G165Splc

c.492+1G>C

6 papers

NM_000314.8

p.K164_G165Splc

c.492+1G>T

15 papers

NM_000314.8

p.K164fs

c.490_491fs

1 paper

NM_000314.8

p.K164_G165insG

c.490_494ins3

1 paper

NM_000314.8

p.K164Q

c.490A>C