Varaico: Literature-Extracted Genetic Variants

CHRDL1

51 papers

RefSeq Summary

This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to...

Pfam Domains

VWC2L_2ndaa 37–98UCSCVWC2L-like domain

VWC2L_2ndaa 115–177UCSCVWC2L-like domain

VWCaa 260–322UCSCvon Willebrand factor type C domain

CHRDL_1_2_Caa 337–456UCSCChordin-like protein 1/2 C-terminal

Gene Aliases

HGNC Name

chordin like 1

HGNC Previous Symbol

MGC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001143981.2

p.L278F

c.832C>T

Surrounding Variants

1 paper

NM_001143981.2

p.R279W

c.835C>T

1 paper

NM_001143981.2

p.S269_H270delFs

c.807_808delGA

1 paper

NM_001143981.2

p.H270fs

c.808_809fs

3 papers

NM_001143981.2

p.C289R

c.865T>C

2 papers

NM_001143981.2

p.C291fs

c.871_872fs

1 paper

NM_001143981.2

p.G265R

c.793G>C

1 paper

NM_001143981.2

p.G265R

c.793G>A

3 papers

NM_001143981.2

p.C291Y

c.872G>A

1 paper

NM_001143981.2

p.C291C

c.873T>C

3 papers

NM_001143981.2

p.C291delFs

c.872delC

3 papers

NM_001143981.2

p.C261F

c.782G>T

1 paper

NM_001143981.2

p.K295N

c.885G>T