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.P246_P248del0

c.738_743del6

Surrounding Variants

1 paper

NM_000314.8

p.Q245Q

c.735G>A

1 paper

NM_000314.8

p.Q245_P246insFs

c.735_736insA

1 paper

NM_000314.8

p.Q245_P246ins2

c.735_736ins6

1 paper

NM_000314.8

p.P246insFs

c.737dupC

1 paper

NM_000314.8

p.P246insFs

c.736_737dupCC

1 paper

NM_000314.8

p.Q245_P246insFs

c.735_736ins16

1 paper

NM_000314.8

p.P246delFs

c.737delC

1 paper

NM_000314.8

p.P246_L247delFs

c.736_739del4

2 papers

NM_000314.8

p.Q245P

c.734A>C

1 paper

NM_000314.8

p.Q245R

c.734A>G

1 paper

NM_000314.8

p.Q245L

c.734A>T

2 papers

NM_000314.8

p.P246T

c.736C>A