Varaico: Literature-Extracted Genetic Variants

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

1–12 of 104 variants

2 papers

NM_003741.4

p.L11M

c.31C>A

2 papers

NM_003741.4

p.T457S

c.1369A>T

2 papers

NM_003741.4

p.T457S

c.1370C>G

2 papers

NM_003741.4

p.M630L

c.1888A>C

2 papers

NM_003741.4

p.M630L

c.1888A>T

2 papers

NM_003741.4

p.T633I

c.1898C>T

2 papers

NM_003741.4

p.A660V

c.1979C>T

2 papers

NM_003741.4

p.V666G

c.1997T>G

2 papers

NM_003741.4

p.A754G

c.2261C>G

1 paper

NM_003741.4

p.L18L

c.54G>A

1 paper

NM_003741.4

p.P29P

c.87A>C

1 paper

NM_003741.4

p.L34Fs

c.101delinsTGCCCFs