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

16 papers

NM_000314.8

p.M270I

c.810G>A

Surrounding Variants

16 papers

NM_000314.8

p.M270I

c.810G>C

17 papers

NM_000314.8

p.M270I

c.810G>T

1 paper

NM_000314.8

p.F271del1

c.811_812delTTT

1 paper

NM_000314.8

p.F271_F273delFs

c.811_818del8

5 papers

NM_000314.8

p.M270K

c.809T>A

2 papers

NM_000314.8

p.F271I

c.811T>A

6 papers

NM_000314.8

p.M270T

c.809T>C

1 paper

NM_000314.8

p.F271L

c.811T>C

2 papers

NM_000314.8

p.M270fs

c.808_809fs

1 paper

NM_000314.8

p.M270V

c.808A>G

1 paper

NM_000314.8

p.M270L

c.808A>T

11 papers

NM_000314.8

p.F271S

c.812T>C