Varaico: Literature-Extracted Genetic Variants

Gene:CHRD
Variant:p.D215Y

CHRD

130 papers

RefSeq Summary

This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. ...

Pfam Domains

VWCaa 51–125UCSCvon Willebrand factor type C domain
CHRDaa 283–397UCSCCHRD domain
CHRDaa 406–519UCSCCHRD domain
CHRDaa 534–645UCSCCHRD domain
VWCaa 705–762UCSCvon Willebrand factor type C domain
VWCaa 784–850UCSCvon Willebrand factor type C domain

Gene Aliases

HGNC Name

chordin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003741.4
p.D215Y
c.643G>T
Surrounding Variants
1 paper
NM_003741.4
p.F222Y
c.665T>A
1 paper
NM_003741.4
p.R186R
c.556C>A
1 paper
NM_003741.4
p.A174T
c.520G>A
1 paper
NM_003741.4
p.R163W
c.487C>T
1 paper
NM_003741.4
p.E157D
c.471G>C
1 paper
NM_003741.4
p.E157D
c.471G>T
1 paper
NM_003741.4
p.G156insFs
c.467_468insT
1 paper
NM_003741.4
p.G156W
c.466G>T
1 paper
NM_003741.4
p.E148V
c.443A>T
1 paper
NM_003741.4
p.R247insFs
c.740dupG
1 paper
NM_003741.4
p.R276Q
c.827G>A
1 paper
NM_003741.4
p.E281Splc
c.841+9C>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."