Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.I176V

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
1 paper
NM_001353214.3
p.I176V
c.526A>G
Surrounding Variants
1 paper
NM_001353214.3
p.V173G
c.518T>G
1 paper
NM_001353214.3
p.V181I
c.541G>A
1 paper
NM_001353214.3
p.S184P
c.550T>C
1 paper
NM_001353214.3
p.E191G
c.572A>G
9 papers
NM_001353214.3
p.R194*
c.580C>T
12 papers
NM_001353214.3
p.R204*
c.610C>T
8 papers
NM_001353214.3
p.C207Splc
c.621-2A>G
1 paper
NM_001353214.3
p.V215L
c.643G>T
1 paper
NM_001353214.3
p.V215L
c.643G>C
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.Y220*
c.660T>G
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