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.F90L

c.270T>G

Surrounding Variants

6 papers

NM_000314.8

p.F90L

c.270T>A

1 paper

NM_000314.8

p.E91delFs

c.271delG

1 paper

NM_000314.8

p.E91del1

c.271_272delGAA

3 papers

NM_000314.8

p.E91K

c.271G>A

8 papers

NM_000314.8

p.E91Q

c.271G>C

3 papers

NM_000314.8

p.E91fs

c.271_272fs

5 papers

NM_000314.8

p.E91*

c.271G>T

1 paper

NM_000314.8

p.E91delFs

c.273delA

1 paper

NM_000314.8

p.E91delins

c.271_272delinsTT

20 papers

NM_000314.8

p.F90S

c.269T>C

3 papers

NM_000314.8

p.F90C

c.269T>G

1 paper

NM_000314.8

p.F90insFs

c.269_270ins4