Varaico: Literature-Extracted Genetic Variants

Gene:PIWIL4
Variant:p.R447Q

PIWIL4

69 papers

RefSeq Summary

PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008].

Pfam Domains

Piwi_Naa 121–194UCSCPiwi, N-terminal domain
PAZaa 274–406UCSCPAZ domain
Piwiaa 546–838UCSCPiwi domain

Gene Aliases

HGNC Name

piwi like RNA-mediated gene silencing 4

HGNC Alias Symbols

FLJ36156; HIWI2; Miwi2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152431.3
p.R447Q
c.1340G>A
Surrounding Variants
1 paper
NM_152431.3
p.A415V
c.1244C>T
1 paper
NM_152431.3
p.Q412delFs
c.1235delA
1 paper
NM_152431.3
p.R404H
c.1211G>A
1 paper
NM_152431.3
p.T403A
c.1207A>G
1 paper
NM_152431.3
p.E401K
c.1201G>A
1 paper
NM_152431.3
p.R474*
c.1420C>T
1 paper
NM_152431.3
p.I478V
c.1432A>G
1 paper
NM_152431.3
p.D493N
c.1477G>A
1 paper
NM_152431.3
p.A499A
c.1497C>T
2 papers
NM_152431.3
p.C505F
c.1514G>T
1 paper
NM_152431.3
p.G514E
c.1541G>A
1 paper
NM_152431.3
p.D518H
c.1552G>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."