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.D404D

c.1212C>T

Surrounding Variants

1 paper

NM_003741.4

p.R388S

c.1164G>C

1 paper

NM_003741.4

p.R388S

c.1164G>T

1 paper

NM_003741.4

p.R388K

c.1163G>A

1 paper

NM_003741.4

p.W385L

c.1154G>T

1 paper

NM_003741.4

p.G377A

c.1130G>C

1 paper

NM_003741.4

p.L410I

c.1228C>A

1 paper

NM_003741.4

p.G412V

c.1235G>T

1 paper

NM_003741.4

p.G422S

c.1264G>A

1 paper

NM_003741.4

p.A423S

c.1267G>T

1 paper

NM_003741.4

p.S436F

c.1307C>T

1 paper

NM_003741.4

p.L339fs

c.1015_1016fs

1 paper

NM_003741.4

p.L339delFs

c.1015delC