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.T501T

c.1503G>A

Surrounding Variants

1 paper

NM_004764.5

p.R502*

c.1504C>T

1 paper

NM_004764.5

p.R502Q

c.1505G>A

1 paper

NM_004764.5

p.E481K

c.1441G>A

5 papers

NM_004764.5

p.R527K

c.1580G>A

1 paper

NM_004764.5

p.Y471*

c.1413C>A

1 paper

NM_004764.5

p.Y471*

c.1413C>G

1 paper

NM_004764.5

p.G466delFs

c.1398delA

1 paper

NM_004764.5

p.G466fs

c.1396_1397fs

1 paper

NM_004764.5

p.S451delFs

c.1351delT

1 paper

NM_004764.5

p.L450R

c.1349T>G

1 paper

NM_004764.5

p.W441*

c.1323G>A

1 paper

NM_004764.5

p.W441*

c.1322G>A