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

372 papers

NM_000314.8

p.G129E

c.386G>A

Surrounding Variants

7 papers

NM_000314.8

p.G129A

c.386G>C

24 papers

NM_000314.8

p.G129V

c.386G>T

1 paper

NM_000314.8

p.G129delFs

c.387delA

2 papers

NM_000314.8

p.G129delins

c.386_387delinsTT

1 paper

NM_000314.8

p.G129_R130delFs

c.387_388delAC

1 paper

NM_000314.8

p.R130_T131delFs

c.389_392del4

1 paper

NM_000314.8

p.G129_R130insFs

c.387_388ins4

1 paper

NM_000314.8

p.R130delFs

c.388delC

1 paper

NM_000314.8

p.G129_R130Fs

c.387_389delinsCCFs

2 papers

NM_000314.8

p.R130_T131del0

c.388_393del6

140 papers

NM_000314.8

p.G129R

c.385G>A

138 papers

NM_000314.8

p.G129R

c.385G>C