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.P29P

c.87A>C

Surrounding Variants

1 paper

NM_003741.4

p.L34Fs

c.101delinsTGCCCFs

1 paper

NM_003741.4

p.S38_P42delFs

c.112_124del13

1 paper

NM_003741.4

p.S38Y

c.113C>A

1 paper

NM_003741.4

p.L18L

c.54G>A

1 paper

NM_003741.4

p.V45I

c.133G>A

1 paper

NM_003741.4

p.R46W

c.136C>T

1 paper

NM_003741.4

p.R46L

c.137G>T

2 papers

NM_003741.4

p.L11M

c.31C>A

1 paper

NM_003741.4

p.G54A

c.161G>C

1 paper

NM_003741.4

p.L68L

c.202C>T

1 paper

NM_003741.4

p.P71L

c.212C>T

1 paper

NM_003741.4

p.R76C

c.226C>T