Varaico: Literature-Extracted Genetic Variants

Gene:C9orf40

C9orf40

12 papers

Pfam Domains

WRNPLPNIDaa 148–194UCSCPutative WW-binding domain and destruction box

Gene Aliases

HGNC Name

chromosome 9 open reading frame 40

HGNC Alias Symbol

FLJ10110

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_017998.3
p.Q154Q
c.462G>A
1 paper
NM_017998.3
p.D23G
c.68A>G
1 paper
NM_017998.3
p.A25T
c.73G>A
1 paper
NM_017998.3
p.A43T
c.127G>A
1 paper
NM_017998.3
p.A68G
c.203C>G
1 paper
NM_017998.3
p.S76C
c.226A>T
1 paper
NM_017998.3
p.G91R
c.271G>C
1 paper
NM_017998.3
p.G91S
c.271G>A
1 paper
NM_017998.3
p.P108insFs
c.323dupC
1 paper
NM_017998.3
p.E110K
c.328G>A
1 paper
NM_017998.3
p.E110fs
c.328_329fs
1 paper
NM_017998.3
p.E110delFs
c.328delC
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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."