Varaico: Literature-Extracted Genetic Variants

Gene:PIWIL3
Variant:p.C412R

PIWIL3

55 papers

RefSeq Summary

This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-term...

Pfam Domains

Piwi_Naa 140–213UCSCPiwi, N-terminal domain
PAZaa 295–428UCSCPAZ domain
Piwiaa 569–859UCSCPiwi domain

Gene Aliases

HGNC Name

piwi like RNA-mediated gene silencing 3

HGNC Alias Symbol

HIWI3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001255975.1
p.C412R
c.1234T>C
Surrounding Variants
1 paper
NM_001255975.1
p.I411K
c.1232T>A
1 paper
NM_001255975.1
p.D445Splc
c.1334+2T>C
1 paper
NM_001255975.1
p.H403fs
c.1207_1208fs
1 paper
NM_001255975.1
p.R392H
c.1175G>A
2 papers
NM_001255975.1
p.P375S
c.1123C>T
1 paper
NM_001255975.1
p.R450*
c.1348C>T
3 papers
NM_001255975.1
p.V471I
c.1411G>A
1 paper
NM_001255975.1
p.R482_M483del1
c.1445_1447delTTC
1 paper
NM_001255975.1
p.R482_M483del2
c.1444_1448del6
1 paper
NM_001255975.1
p.K340K
c.1020G>A
1 paper
NM_001255975.1
p.N316T
c.947A>C
1 paper
NM_001255975.1
p.R311P
c.932G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."