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.S338delFs

c.1013delC

Surrounding Variants

1 paper

NM_000314.8

p.S338T

c.1012T>A

9 papers

NM_000314.8

p.S338fs

c.1012_1013fs

4 papers

NM_000314.8

p.S338fs

c.1012_1013fs

3 papers

NM_000314.8

p.S338Y

c.1013C>A

1 paper

NM_000314.8

p.S338C

c.1013C>G

2 papers

NM_000314.8

p.F337L

c.1011T>A

2 papers

NM_000314.8

p.F337L

c.1011T>G

6 papers

NM_000314.8

p.F337S

c.1010T>C

1 paper

NM_000314.8

p.F337insFs

c.1010_1011insA

1 paper

NM_000314.8

p.P339delFs

c.1016delC

4 papers

NM_000314.8

p.P339fs

c.1015_1016fs

1 paper

NM_000314.8

p.P339_N340insC

c.1015_1019ins3