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

Selected Variant

1 paper

NM_003741.4

p.G320V

c.959G>T

Surrounding Variants

1 paper

NM_003741.4

p.F314C

c.941T>G

1 paper

NM_003741.4

p.T308R

c.923C>G

1 paper

NM_003741.4

p.T308I

c.923C>T

1 paper

NM_003741.4

p.P293_Q294insC

c.877_881ins3

1 paper

NM_003741.4

p.G291S

c.871G>A

1 paper

NM_003741.4

p.T282I

c.845C>T

1 paper

NM_003741.4

p.Q331H

c.993G>C

1 paper

NM_003741.4

p.Q331H

c.993G>T

1 paper

NM_003741.4

p.L339delFs

c.1015delC

1 paper

NM_003741.4

p.L339fs

c.1015_1016fs

1 paper

NM_003741.4

p.E281Splc

c.841+9C>T

1 paper

NM_003741.4

p.R276Q

c.827G>A