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.R230Q

c.689G>A

Surrounding Variants

4 papers

NM_004764.5

p.R230*

c.688C>T

1 paper

NM_004764.5

p.N231K

c.693T>A

1 paper

NM_004764.5

p.N231K

c.693T>G

1 paper

NM_004764.5

p.Q226_Q227delFs

c.678_681del4

1 paper

NM_004764.5

p.D237E

c.711C>A

1 paper

NM_004764.5

p.D237E

c.711C>G

1 paper

NM_004764.5

p.L219L

c.657T>C

1 paper

NM_004764.5

p.H244fs

c.730_731fs

1 paper

NM_004764.5

p.Q258P

c.773A>C

2 papers

NM_004764.5

p.T194M

c.581C>T

1 paper

NM_004764.5

p.D268V

c.803A>T

1 paper

NM_004764.5

p.K272N

c.816A>C