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.F354L

c.1060T>C

Surrounding Variants

1 paper

NM_001278473.3

p.R353H

c.1058G>A

1 paper

NM_001278473.3

p.R352G

c.1054C>G

2 papers

NM_001278473.3

p.P335L

c.1004C>T

1 paper

NM_001278473.3

p.D320E

c.960C>G

1 paper

NM_001278473.3

p.D320E

c.960C>A

1 paper

NM_001278473.3

p.C300_R301insA

c.898_902ins3

1 paper

NM_001278473.3

p.Y298S

c.893A>C

1 paper

NM_001278473.3

p.T296delFs

c.888delG

1 paper

NM_001278473.3

p.T296fs

c.886_887fs

1 paper

NM_001278473.3

p.R291H

c.872G>A

1 paper

NM_001278473.3

p.L279I

c.835C>A

1 paper

NM_001278473.3

p.I242I

c.726C>T