Varaico: Literature-Extracted Genetic Variants

PIWIL1

133 papers

RefSeq Summary

This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA s...

Pfam Domains

GAGEaa 1–109UCSCGAGE protein

Piwi_Naa 127–200UCSCPiwi, N-terminal domain

ArgoL1aa 227–276UCSCArgonaute linker 1 domain

PAZaa 280–413UCSCPAZ domain

Piwiaa 555–847UCSCPiwi domain

Gene Aliases

HGNC Name

piwi like RNA-mediated gene silencing 1

HGNC Alias Symbols

PIWI; HIWI; CT80.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004764.5

p.R696Q

c.2087G>A

Surrounding Variants

2 papers

NM_004764.5

p.R701C

c.2101C>T

2 papers

NM_004764.5

p.D702N

c.2104G>A

1 paper

NM_004764.5

p.N690S

c.2069A>G

2 papers

NM_004764.5

p.A685V

c.2054C>T

1 paper

NM_004764.5

p.L712L

c.2134C>T

1 paper

NM_004764.5

p.E716K

c.2146G>A

1 paper

NM_004764.5

p.Y731C

c.2192A>G

1 paper

NM_004764.5

p.R661C

c.1981C>T

1 paper

NM_004764.5

p.A645T

c.1933G>A

1 paper

NM_004764.5

p.R641W

c.1921C>T

1 paper

NM_004764.5

p.I631F

c.1891A>T

1 paper

NM_004764.5

p.T596A

c.1786A>G