Varaico: Literature-Extracted Genetic Variants

Gene:PIWIL4
Variant:p.C293Y

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.C293Y
c.878G>A
Surrounding Variants
1 paper
NM_152431.3
p.Q282_R283del1
c.846_848delAAG
1 paper
NM_152431.3
p.Q282_R283del2
c.844_848del6
1 paper
NM_152431.3
p.E275*
c.823G>T
1 paper
NM_152431.3
p.R269W
c.805C>T
1 paper
NM_152431.3
p.K256Q
c.766A>C
1 paper
NM_152431.3
p.F246F
c.738T>C
1 paper
NM_152431.3
p.K239insFs
c.715dupA
1 paper
NM_152431.3
p.Y227insFs
c.680dupA
8 papers
NM_152431.3
p.Q327L
c.980A>T
4 papers
NM_152431.3
p.Q327delins
c.980_981delinsTA
1 paper
NM_152431.3
p.Q327Q
c.981G>A
1 paper
NM_152431.3
p.R329Q
c.986G>A
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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."