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

31 papers

NM_000314.8

p.E242*

c.724G>T

Surrounding Variants

8 papers

NM_000314.8

p.E242K

c.724G>A

3 papers

NM_000314.8

p.E242Q

c.724G>C

14 papers

NM_000314.8

p.E242fs

c.724_725fs

7 papers

NM_000314.8

p.E242fs

c.724_725fs

2 papers

NM_000314.8

p.E242G

c.725A>G

3 papers

NM_000314.8

p.E242_F243del1

c.726_728delGTT

1 paper

NM_000314.8

p.F243_L247del0

c.729_740del12

17 papers

NM_000314.8

p.F241L

c.723T>A

3 papers

NM_000314.8

p.F241F

c.723T>C

16 papers

NM_000314.8

p.F241L

c.723T>G

1 paper

NM_000314.8

p.F241_E242insFs

c.723_724ins13

1 paper

NM_000314.8

p.F241_E242insFs

c.723_724ins7