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.R234_E235delFs

c.702_703delGG

Surrounding Variants

2 papers

NM_000314.8

p.E235insFs

c.703dupG

9 papers

NM_000314.8

p.R234fs

c.700_701fs

5 papers

NM_000314.8

p.R234G

c.700C>G

20 papers

NM_000314.8

p.R234W

c.700C>T

4 papers

NM_000314.8

p.E235delFs

c.703delG

12 papers

NM_000314.8

p.R234fs

c.700_701fs

1 paper

NM_000314.8

p.R233_R234insFs

c.699_700ins8

1 paper

NM_000314.8

p.R234insFs

c.700dupC

1 paper

NM_000314.8

p.R234insFs

c.700_701ins7

1 paper

NM_000314.8

p.R233_R234insFs

c.699_700ins10

1 paper

NM_000314.8

p.R233_R234insFs

c.699_700ins11

1 paper

NM_000314.8

p.R233R

c.699A>C