Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.Y16*

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
4 papers
NM_001353214.3
p.Y16*
c.48C>A
Surrounding Variants
6 papers
NM_001353214.3
p.Y16*
c.48C>G
4 papers
NM_001353214.3
p.L20*
c.59T>G
4 papers
NM_001353214.3
p.L20*
c.59T>A
3 papers
NM_001353214.3
p.S21*
c.62C>G
3 papers
NM_001353214.3
p.S21*
c.62C>A
1 paper
NM_001353214.3
p.L20_G22delFs
c.58_65del8
1 paper
NM_001353214.3
p.N4N
c.12T>C
5 papers
NM_001353214.3
p.F32insFs
c.95_96insT
3 papers
NM_001353214.3
p.W33fs
c.97_98fs
1 paper
NM_001353214.3
p.S38L
c.113C>T
1 paper
NM_001353214.3
p.S47fs
c.139_140fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."