Varaico: Literature-Extracted Genetic Variants

Gene:CER1
Variant:p.Q169_T170Splc

CER1

55 papers

RefSeq Summary

This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gr...

Pfam Domains

DANaa 135–244UCSCDAN domain

Gene Aliases

HGNC Name

cerberus 1, DAN family BMP antagonist

HGNC Alias Symbol

DAND4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005454.3
p.Q169_T170Splc
c.508-182A>G
Surrounding Variants
1 paper
NM_005454.3
p.Q169_T170Splc
c.508-243A>G
1 paper
NM_005454.3
p.Q169_T170Splc
c.508-244T>G
1 paper
NM_005454.3
p.Q169_T170Splc
c.508-93A>T
1 paper
NM_005454.3
p.E174K
c.520G>A
2 papers
NM_005454.3
p.E177E
c.531A>G
1 paper
NM_005454.3
p.K178T
c.533A>C
2 papers
NM_005454.3
p.V179I
c.535G>A
1 paper
NM_005454.3
p.N184N
c.552C>T
1 paper
NM_005454.3
p.V193D
c.578T>A
1 paper
NM_005454.3
p.Q200*
c.598C>T
1 paper
NM_005454.3
p.H201R
c.602A>G
1 paper
NM_005454.3
p.P211S
c.631C>T
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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."