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.A19E

c.56C>A

Surrounding Variants

1 paper

NM_004764.5

p.A19T

c.55G>A

1 paper

NM_004764.5

p.E17V

c.50A>T

1 paper

NM_004764.5

p.S24C

c.71C>G

1 paper

NM_004764.5

p.R12R

c.36G>A

1 paper

NM_004764.5

p.R10G

c.28A>G

1 paper

NM_004764.5

p.G3R

c.7G>A

1 paper

NM_004764.5

p.T2T

c.6T>C

1 paper

NM_004764.5

p.T2_G3delFs

c.4_7del4

1 paper

NM_004764.5

p.Q28insFs

c.82dupC

1 paper

NM_004764.5

p.G31D

c.92G>A

1 paper

NM_004764.5

p.E45_L46delFs

c.135_136delAT

1 paper

NM_004764.5

p.L46I

c.136T>A