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

2 papers

NM_000314.8

p.A39E

c.116C>A

Surrounding Variants

2 papers

NM_000314.8

p.A39insFs

c.116_117insG

4 papers

NM_000314.8

p.A39G

c.116C>G

6 papers

NM_000314.8

p.A39V

c.116C>T

2 papers

NM_000314.8

p.A39_E40delFs

c.117_120del4

9 papers

NM_000314.8

p.A39T

c.115G>A

11 papers

NM_000314.8

p.A39P

c.115G>C

1 paper

NM_000314.8

p.A39insFs

c.116dupC

2 papers

NM_000314.8

p.A39fs

c.115_116fs

1 paper

NM_000314.8

p.A39S

c.115G>T

1 paper

NM_000314.8

p.A39fs

c.115_116fs

4 papers

NM_000314.8

p.E40K

c.118G>A

1 paper

NM_000314.8

p.E40Q

c.118G>C