Varaico: Literature-Extracted Genetic Variants

Gene:DYTN
Variant:p.E428fs

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.E428fs
c.1282_1283fs
Surrounding Variants
1 paper
NM_001093730.1
p.P429S
c.1285C>T
1 paper
NM_001093730.1
p.E428*
c.1282G>T
1 paper
NM_001093730.1
p.E428fs
c.1282_1283fs
1 paper
NM_001093730.1
p.G427W
c.1279G>T
1 paper
NM_001093730.1
p.L415F
c.1245G>T
1 paper
NM_001093730.1
p.L415F
c.1245G>C
1 paper
NM_001093730.1
p.Y414_L415delFs
c.1240_1244del5
1 paper
NM_001093730.1
p.P409L
c.1226C>T
1 paper
NM_001093730.1
p.K407K
c.1221G>A
1 paper
NM_001093730.1
p.D401H
c.1201G>C
1 paper
NM_001093730.1
p.E457G
c.1370A>G
1 paper
NM_001093730.1
p.H461P
c.1382A>C
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