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

6 papers

NM_000314.8

p.G44S

c.130G>A

Surrounding Variants

4 papers

NM_000314.8

p.G44R

c.130G>C

3 papers

NM_000314.8

p.G44fs

c.130_131fs

6 papers

NM_000314.8

p.G44C

c.130G>T

1 paper

NM_000314.8

p.G44fs

c.130_131fs

2 papers

NM_000314.8

p.G44insFs

c.131dupG

2 papers

NM_000314.8

p.E43D

c.129A>C

2 papers

NM_000314.8

p.E43D

c.129A>T

1 paper

NM_000314.8

p.G44delFs

c.130delG

1 paper

NM_000314.8

p.G44delFs

c.130_131delGG

42 papers

NM_000314.8

p.G44D

c.131G>A

3 papers

NM_000314.8

p.G44A

c.131G>C

1 paper

NM_000314.8

p.G44insFs

c.132dupC