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

6 papers

NM_000314.8

p.K80T

c.239A>C

Surrounding Variants

5 papers

NM_000314.8

p.K80R

c.239A>G

3 papers

NM_000314.8

p.K80I

c.239A>T

1 paper

NM_000314.8

p.K80insFs

c.238_239insG

2 papers

NM_000314.8

p.K80fs

c.238_239fs

1 paper

NM_000314.8

p.F81insFs

c.241_242insTT

6 papers

NM_000314.8

p.K80N

c.240A>C

2 papers

NM_000314.8

p.K80Q

c.238A>C

9 papers

NM_000314.8

p.K80E

c.238A>G

6 papers

NM_000314.8

p.K80N

c.240A>T

4 papers

NM_000314.8

p.K80*

c.238A>T

2 papers

NM_000314.8

p.K80fs

c.238_239fs

1 paper

NM_000314.8

p.F81I

c.241T>A