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.I32_I33insFs

c.96_97insT

Surrounding Variants

2 papers

NM_000314.8

p.I32fs

c.94_95fs

1 paper

NM_000314.8

p.I32L

c.94A>C

2 papers

NM_000314.8

p.I32V

c.94A>G

2 papers

NM_000314.8

p.I32F

c.94A>T

3 papers

NM_000314.8

p.I32delFs

c.95delT

1 paper

NM_000314.8

p.I32fs

c.94_95fs

3 papers

NM_000314.8

p.N31K

c.93C>A

4 papers

NM_000314.8

p.N31K

c.93C>G

1 paper

NM_000314.8

p.N31N

c.93C>T

27 papers

NM_000314.8

p.I33del1

c.97_98delATT

1 paper

NM_000314.8

p.I32_I33del2

c.94_98del6

7 papers

NM_000314.8

p.I32N

c.95T>A