Varaico: Literature-Extracted Genetic Variants

Gene:DYTN
Variant:p.G185E

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
Selected Variant
1 paper
NM_001093730.1
p.G185E
c.554G>A
Surrounding Variants
1 paper
NM_001093730.1
p.C182Y
c.545G>A
1 paper
NM_001093730.1
p.W199*
c.596G>A
1 paper
NM_001093730.1
p.W199*
c.597G>A
1 paper
NM_001093730.1
p.E203V
c.608A>T
1 paper
NM_001093730.1
p.P204S
c.610C>T
1 paper
NM_001093730.1
p.L208L
c.624G>T
2 papers
NM_001093730.1
p.P211L
c.632C>T
1 paper
NM_001093730.1
p.R227W
c.679C>T
1 paper
NM_001093730.1
p.R150S
c.450G>T
1 paper
NM_001093730.1
p.R150S
c.450G>C
4 papers
NM_001093730.1
p.S143A
c.427T>G
4 papers
NM_001093730.1
p.P122R
c.365C>G
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