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

33 papers

NM_000314.8

p.D107Y

c.319G>T

Surrounding Variants

14 papers

NM_000314.8

p.D107N

c.319G>A

9 papers

NM_000314.8

p.D107H

c.319G>C

2 papers

NM_000314.8

p.D107fs

c.319_320fs

6 papers

NM_000314.8

p.D107A

c.320A>C

1 paper

NM_000314.8

p.E106D

c.318A>C

9 papers

NM_000314.8

p.D107G

c.320A>G

16 papers

NM_000314.8

p.D107V

c.320A>T

1 paper

NM_000314.8

p.E106D

c.318A>T

1 paper

NM_000314.8

p.D107_D109del0

c.321_326del6

1 paper

NM_000314.8

p.D107delFs

c.321delT

1 paper

NM_000314.8

p.L108delFs

c.322_323delCT

1 paper

NM_000314.8

p.E106A

c.317A>C