Varaico: Literature-Extracted Genetic Variants

Gene:DYTN
Variant:p.S63delFs

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.S63delFs
c.189delA
Surrounding Variants
1 paper
NM_001093730.1
p.Q64L
c.191A>T
1 paper
NM_001093730.1
p.E76*
c.226G>T
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.S48R
c.142A>C
1 paper
NM_001093730.1
p.P83S
c.247C>T
1 paper
NM_001093730.1
p.L105P
c.314T>C
1 paper
NM_001093730.1
p.L105L
c.315C>A
1 paper
NM_001093730.1
p.A110V
c.329C>T
1 paper
NM_001093730.1
p.L114I
c.340C>A
1 paper
NM_001093730.1
p.S118L
c.353C>T
4 papers
NM_001093730.1
p.P122R
c.365C>G
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