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

3 papers

NM_000314.8

p.D312G

c.935A>G

Surrounding Variants

1 paper

NM_000314.8

p.K313_E314ins1

c.939_940insAAG

6 papers

NM_000314.8

p.K313delFs

c.937delA

1 paper

NM_000314.8

p.K313_E314delFs

c.937_940del4

1 paper

NM_000314.8

p.K313_V317del5

c.937_950del15

5 papers

NM_000314.8

p.D312N

c.934G>A

1 paper

NM_000314.8

p.D312fs

c.934_935fs

2 papers

NM_000314.8

p.D312delFs

c.935delA

2 papers

NM_000314.8

p.D312fs

c.934_935fs

1 paper

NM_000314.8

p.D312_Y315del0

c.935_943del9

3 papers

NM_000314.8

p.K313fs

c.937_938fs

1 paper

NM_000314.8

p.K313Q

c.937A>C

2 papers

NM_000314.8

p.K313fs

c.937_938fs