Varaico: Literature-Extracted Genetic Variants

Gene:CER1
Variant:p.F133L

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.F133L
c.397T>C
Surrounding Variants
1 paper
NM_005454.3
p.S124Y
c.371C>A
1 paper
NM_005454.3
p.I152L
c.454A>C
1 paper
NM_005454.3
p.P166T
c.496C>A
1 paper
NM_005454.3
p.D99N
c.295G>A
1 paper
NM_005454.3
p.S97insFs
c.290dupC
1 paper
NM_005454.3
p.Q169K
c.505C>A
1 paper
NM_005454.3
p.P96S
c.286C>T
1 paper
NM_005454.3
p.Q169_T170Splc
c.507+5G>A
1 paper
NM_005454.3
p.Q169_T170Splc
c.507+9T>C
1 paper
NM_005454.3
p.Q169_T170Splc
c.507+13G>C
1 paper
NM_005454.3
p.E91D
c.273G>T
1 paper
NM_005454.3
p.E91D
c.273G>C
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."