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.V69A

c.206T>C

Surrounding Variants

1 paper

NM_001278473.3

p.R73C

c.217C>T

1 paper

NM_001278473.3

p.R73H

c.218G>A

1 paper

NM_001278473.3

p.P77L

c.230C>T

1 paper

NM_001278473.3

p.E97K

c.289G>A

1 paper

NM_001278473.3

p.T100_P101insFs

c.300_301insA

1 paper

NM_001278473.3

p.Q147_I148insA

c.439_443ins3

1 paper

NM_001278473.3

p.C150C

c.450C>T

1 paper

NM_001278473.3

p.P165L

c.494C>T

1 paper

NM_001278473.3

p.P165P

c.495G>A

1 paper

NM_001278473.3

p.E65*

c.193G>T

1 paper

NM_001278473.3

p.C58W

c.174C>G

1 paper

NM_001278473.3

p.M56I

c.168G>A