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.Q131H

c.393G>C

Surrounding Variants

1 paper

NM_004764.5

p.Q131H

c.393G>T

1 paper

NM_004764.5

p.D135_Y136del2

c.403_407del6

1 paper

NM_004764.5

p.T122I

c.365C>T

1 paper

NM_004764.5

p.T122A

c.364A>G

1 paper

NM_004764.5

p.L121_T122ins1

c.363_364insACA

1 paper

NM_004764.5

p.R120R

c.360G>A

1 paper

NM_004764.5

p.R120W

c.358C>T

1 paper

NM_004764.5

p.R144R

c.432A>G

2 papers

NM_004764.5

p.R146C

c.436C>T

1 paper

NM_004764.5

p.A148D

c.443C>A

1 paper

NM_004764.5

p.S115delFs

c.343delA

2 papers

NM_004764.5

p.L150P

c.449T>C