Varaico: Literature-Extracted Genetic Variants

Gene:EQTN
Variant:p.Q219L

EQTN

18 papers

Pfam Domains

Afafaa 53–250UCSCAcrosome formation-associated factor

Gene Aliases

HGNC Name

equatorin

HGNC Previous Symbol

C9orf11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020641.3
p.Q219L
c.656A>T
Surrounding Variants
1 paper
NM_020641.3
p.C216*
c.648T>A
1 paper
NM_020641.3
p.S250T
c.749G>C
1 paper
NM_020641.3
p.N288K
c.864C>G
1 paper
NM_020641.3
p.N288K
c.864C>A
1 paper
NM_020641.3
p.E290K
c.868G>A
2 papers
NM_020641.3
p.P132T
c.394C>A
1 paper
NM_020641.3
p.P129P
c.387A>G
1 paper
NM_020641.3
p.N101D
c.301A>G
1 paper
NM_020641.3
p.L94V
c.280C>G
1 paper
NM_020641.3
p.D89Y
c.265G>T
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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."