Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.T255delFs

DYM

85 papers

RefSeq Summary

This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in...

Pfam Domains

Dymeclinaa 1–504UCSCDyggve-Melchior-Clausen syndrome protein
Dymeclinaa 520–701UCSCDyggve-Melchior-Clausen syndrome protein

Gene Aliases

HGNC Name

dymeclin

HGNC Alias Symbol

FLJ20071

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001353214.3
p.T255delFs
c.763delT
Surrounding Variants
1 paper
NM_001353214.3
p.G252V
c.755G>T
1 paper
NM_001353214.3
p.Y247fs
c.739_740fs
1 paper
NM_001353214.3
p.Y247delFs
c.739delA
1 paper
NM_001353214.3
p.L245R
c.734T>G
1 paper
NM_001353214.3
p.S240*
c.719C>A
1 paper
NM_001353214.3
p.P237fs
c.709_710fs
1 paper
NM_001353214.3
p.V235_F236insFs
c.705_708dup4
1 paper
NM_001353214.3
p.Y220*
c.660T>G
1 paper
NM_001353214.3
p.Y220*
c.660T>A
8 papers
NM_001353214.3
p.L219*
c.656T>G
6 papers
NM_001353214.3
p.L219*
c.656T>A
1 paper
NM_001353214.3
p.V215L
c.643G>T
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