Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.F328L

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.F328L
c.984C>G
Surrounding Variants
1 paper
NM_001353214.3
p.F328L
c.984C>A
1 paper
NM_001353214.3
p.F328L
c.982T>C
1 paper
NM_001353214.3
p.F332C
c.995T>G
1 paper
NM_001353214.3
p.P321delFs
c.963delG
1 paper
NM_001353214.3
p.S322fs
c.964_965fs
4 papers
NM_001353214.3
p.L335delFs
c.1004delA
2 papers
NM_001353214.3
p.Q343fs
c.1027_1028fs
1 paper
NM_001353214.3
p.Q343*
c.1027C>T
1 paper
NM_001353214.3
p.L350R
c.1049T>G
1 paper
NM_001353214.3
p.L352F
c.1056G>T
1 paper
NM_001353214.3
p.L352F
c.1056G>C
4 papers
NM_001353214.3
p.Q343_L352delFs
c.1028_1056del29
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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."