Varaico: Literature-Extracted Genetic Variants

Gene:CNMD
Variant:p.Y73S

CNMD

34 papers

RefSeq Summary

This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins...

Pfam Domains

BRICHOSaa 106–200UCSCBRICHOS domain

Gene Aliases

HGNC Name

chondromodulin

HGNC Previous Symbols

MYETS1; LECT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007015.3
p.Y73S
c.218A>C
Surrounding Variants
1 paper
NM_007015.3
p.H76Q
c.228T>A
1 paper
NM_007015.3
p.Q86*
c.256C>T
1 paper
NM_007015.3
p.G88E
c.263G>A
2 papers
NM_007015.3
p.F116L
c.346T>C
2 papers
NM_007015.3
p.F116L
c.348C>G
2 papers
NM_007015.3
p.F116L
c.348C>A
1 paper
NM_007015.3
p.N118_G119Splc
c.354+23G>C
1 paper
NM_007015.3
p.D69D
c.207C>T
1 paper
NM_007015.3
p.A58T
c.172G>A
1 paper
NM_007015.3
p.G57E
c.170G>A
1 paper
NM_007015.3
p.A44G
c.131C>G
1 paper
NM_007015.3
p.A37V
c.110C>T
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