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

1–12 of 98 variants

5 papers

NM_001143981.2

p.E101Splc

c.301+2T>G

3 papers

NM_001143981.2

p.E34*

c.100G>T

3 papers

NM_001143981.2

p.P56delFs

c.167delG

3 papers

NM_001143981.2

p.C80*

c.240T>A

3 papers

NM_001143981.2

p.C99*

c.297C>A

3 papers

NM_001143981.2

p.R218*

c.652C>T

3 papers

NM_001143981.2

p.C261F

c.782G>T

3 papers

NM_001143981.2

p.C289R

c.865T>C

3 papers

NM_001143981.2

p.C291Y

c.872G>A

3 papers

NM_001143981.2

p.C291delFs

c.872delC

2 papers

NM_001143981.2

p.P56fs

c.166_167fs

2 papers

NM_001143981.2

p.P56L

c.167C>T