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.L343*

c.1028T>G

Surrounding Variants

1 paper

NM_004764.5

p.L343*

c.1028T>A

1 paper

NM_004764.5

p.Y346C

c.1037A>G

1 paper

NM_004764.5

p.E339Q

c.1015G>C

1 paper

NM_004764.5

p.W324R

c.970T>A

1 paper

NM_004764.5

p.W324R

c.970T>C

1 paper

NM_004764.5

p.D320Y

c.958G>T

1 paper

NM_004764.5

p.Y317C

c.950A>G

1 paper

NM_004764.5

p.K315T

c.944A>C

1 paper

NM_004764.5

p.K315_T316delFs

c.945_948del4

1 paper

NM_004764.5

p.Y312C

c.935A>G

1 paper

NM_004764.5

p.Y312F

c.935A>T

1 paper

NM_004764.5

p.G305S

c.913G>A