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.Q97L

c.290A>T

Surrounding Variants

1 paper

NM_000314.8

p.Q97P

c.290A>C

3 papers

NM_000314.8

p.Q97R

c.290A>G

2 papers

NM_000314.8

p.Q97K

c.289C>A

1 paper

NM_000314.8

p.Q97fs

c.289_290fs

3 papers

NM_000314.8

p.Q97E

c.289C>G

23 papers

NM_000314.8

p.Q97*

c.289C>T

2 papers

NM_000314.8

p.Q97fs

c.289_290fs

1 paper

NM_000314.8

p.Q97Q

c.291G>A

3 papers

NM_000314.8

p.Q97H

c.291G>C

3 papers

NM_000314.8

p.Q97H

c.291G>T

1 paper

NM_000314.8

p.L98_L100delFs

c.292_299del8

1 paper

NM_000314.8

p.Q97delFs

c.289delC