Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.Y132*

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
6 papers
NM_001353214.3
p.Y132*
c.396T>A
Surrounding Variants
6 papers
NM_001353214.3
p.Y132*
c.396T>G
1 paper
NM_001353214.3
p.G138C
c.412G>T
1 paper
NM_001353214.3
p.L107L
c.321G>A
1 paper
NM_001353214.3
p.F99I
c.295T>A
1 paper
NM_001353214.3
p.I98M
c.294C>G
1 paper
NM_001353214.3
p.I98F
c.292A>T
1 paper
NM_001353214.3
p.H97Y
c.289C>T
1 paper
NM_001353214.3
p.N96_H97insFs
c.288_289insAA
6 papers
NM_001353214.3
p.N96Splc
c.288-2A>G
3 papers
NM_001353214.3
p.Q95_N96insT
c.283_287ins3
2 papers
NM_001353214.3
p.S91*
c.272C>G
2 papers
NM_001353214.3
p.S91*
c.272C>A
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