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

3 papers

NM_000314.8

p.N184I

c.551A>T

Surrounding Variants

7 papers

NM_000314.8

p.N184fs

c.550_551fs

1 paper

NM_000314.8

p.N184Y

c.550A>T

14 papers

NM_000314.8

p.N184fs

c.550_551fs

NM_001304717.5

p.N357fs

c.1069_1070fs

1 paper

NM_000314.8

p.H185del1

c.553_554delCAT

1 paper

NM_000314.8

p.H185_P190delFs

c.553_568del16

1 paper

NM_000314.8

p.H185N

c.553C>A

1 paper

NM_000314.8

p.H185fs

c.553_554fs

4 papers

NM_000314.8

p.H185D

c.553C>G

5 papers

NM_000314.8

p.H185Y

c.553C>T

1 paper

NM_000314.8

p.H185fs

c.553_554fs

1 paper

NM_000314.8

p.K183K

c.549G>A

7 papers

NM_000314.8

p.K183N

c.549G>C