Varaico: Literature-Extracted Genetic Variants

Gene:DYTN

DYTN

60 papers

RefSeq Summary

This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' ...

Pfam Domains

EF-hand_2aa 4–118UCSCEF hand
EF-hand_3aa 123–217UCSCEF-hand
ZZaa 222–267UCSCZinc finger, ZZ type

Gene Aliases

HGNC Name

dystrotelin

Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
4 papers
NM_001093730.1
p.P122R
c.365C>G
4 papers
NM_001093730.1
p.S143A
c.427T>G
4 papers
NM_001093730.1
p.Q474K
c.1420C>A
2 papers
NM_001093730.1
p.P211L
c.632C>T
2 papers
NM_001093730.1
p.A305V
c.914C>T
2 papers
NM_001093730.1
p.M535T
c.1604T>C
1 paper
NM_001093730.1
p.Q6K
c.16C>A
1 paper
NM_001093730.1
p.S25L
c.74C>T
1 paper
NM_001093730.1
p.S48R
c.142A>C
1 paper
NM_001093730.1
p.S48R
c.144T>G
1 paper
NM_001093730.1
p.S48R
c.144T>A
1 paper
NM_001093730.1
p.S63delFs
c.189delA
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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."