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.M895I

c.2685G>C

Surrounding Variants

1 paper

NM_003741.4

p.M895I

c.2685G>A

1 paper

NM_003741.4

p.M895I

c.2685G>T

1 paper

NM_003741.4

p.G903G

c.2709G>C

1 paper

NM_003741.4

p.R873H

c.2618G>A

1 paper

NM_003741.4

p.R870L

c.2609G>T

1 paper

NM_003741.4

p.V852V

c.2556G>A

1 paper

NM_003741.4

p.S915L

c.2744C>T

1 paper

NM_003741.4

p.S926N

c.2777G>A

1 paper

NM_003741.4

p.R937Q

c.2810G>A

1 paper

NM_003741.4

p.P938S

c.2812C>T

1 paper

NM_003741.4

p.P938Splc

c.2813-1G>C

1 paper

NM_003741.4

p.T944I

c.2831C>T