Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.N469Y

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
9 papers
NM_001353214.3
p.N469Y
c.1405A>T
Surrounding Variants
1 paper
NM_001353214.3
p.Q479H
c.1437G>T
1 paper
NM_001353214.3
p.Q479H
c.1437G>C
10 papers
NM_001353214.3
p.Q483*
c.1447C>T
1 paper
NM_001353214.3
p.S487Splc
c.1460+2T>C
5 papers
NM_001353214.3
p.R455*
c.1363C>T
1 paper
NM_001353214.3
p.G436V
c.1307G>T
1 paper
NM_001353214.3
p.S434F
c.1301C>T
3 papers
NM_001353214.3
p.R428*
c.1282C>T
1 paper
NM_001353214.3
p.I418_E427delFs
c.1252_1279del28
9 papers
NM_001353214.3
p.V417_I418Splc
c.1252-1G>A
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."