Varaico: Literature-Extracted Genetic Variants

CHRDL2

37 papers

RefSeq Summary

This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the trans...

Pfam Domains

VWC2L_2ndaa 33–94UCSCVWC2L-like domain

VWCaa 111–174UCSCvon Willebrand factor type C domain

VWCaa 252–314UCSCvon Willebrand factor type C domain

Gene Aliases

HGNC Name

chordin like 2

HGNC Alias Symbol

BNF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278473.3

p.M1Fs

c.1delinsAGCAGGTACAGFs

Surrounding Variants

1 paper

NM_001278473.3

p.M1V

c.1A>G

1 paper

NM_001278473.3

p.R6fs

c.16_17fs

3 papers

NM_001278473.3

p.A15T

c.43G>A

1 paper

NM_001278473.3

p.W18*

c.54G>A

1 paper

NM_001278473.3

p.L21fs

c.61_62fs

1 paper

NM_001278473.3

p.L21insFs

c.61dupC

1 paper

NM_001278473.3

p.D22A

c.65A>C