Varaico: Literature-Extracted Genetic Variants

Gene:CHORDC1
Variant:p.R231R

CHORDC1

26 papers

Pfam Domains

CHORDaa 3–64UCSCCHORD
CHORDaa 155–216UCSCCHORD
CSaa 230–306UCSCCS domain

Gene Aliases

HGNC Name

cysteine and histidine rich domain containing 1

HGNC Alias Symbol

CHP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012124.3
p.R231R
c.693A>G
Surrounding Variants
1 paper
NM_012124.3
p.V227fs
c.679_680fs
1 paper
NM_012124.3
p.R256Q
c.767G>A
1 paper
NM_012124.3
p.E316*
c.946G>T
1 paper
NM_012124.3
p.Q323Q
c.969G>A
2 papers
NM_012124.3
p.A329D
c.986C>A
1 paper
NM_012124.3
p.A223V
c.668C>T
1 paper
NM_012124.3
p.G214W
c.640G>T
1 paper
NM_012124.3
p.G188Splc
c.563+9T>C
1 paper
NM_012124.3
p.M115V
c.343A>G
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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."