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

3 papers

NM_001143981.2

p.R218*

c.652C>T

Surrounding Variants

1 paper

NM_001143981.2

p.R209H

c.626G>A

1 paper

NM_001143981.2

p.R209C

c.625C>T

1 paper

NM_001143981.2

p.H208R

c.623A>G

1 paper

NM_001143981.2

p.Y207insFs

c.619_620insT

1 paper

NM_001143981.2

p.A229T

c.685G>A

1 paper

NM_001143981.2

p.Y207fs

c.619_620fs

1 paper

NM_001143981.2

p.S231delFs

c.693delA

1 paper

NM_001143981.2

p.R233W

c.697C>T

1 paper

NM_001143981.2

p.G234fs

c.700_701fs

1 paper

NM_001143981.2

p.V260M

c.778G>A

1 paper

NM_001143981.2

p.V260M

c.778G>A

3 papers

NM_001143981.2

p.C261F

c.782G>T