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.E34*

c.100G>T

Surrounding Variants

1 paper

NM_001143981.2

p.E34Q

c.100G>C

1 paper

NM_001143981.2

p.E34fs

c.100_101fs

1 paper

NM_001143981.2

p.E34_T35delFs

c.102_103delTC

1 paper

NM_001143981.2

p.W50G

c.148T>G

2 papers

NM_001143981.2

p.P56fs

c.166_167fs

2 papers

NM_001143981.2

p.P56L

c.167C>T

1 paper

NM_001143981.2

p.P56fs

c.166_167fs

3 papers

NM_001143981.2

p.P56delFs

c.167delG

1 paper

NM_001143981.2

p.L59L

c.175T>C

1 paper

NM_001143981.2

p.E69_N70Splc

c.207+1G>A

1 paper

NM_001143981.2

p.R77*

c.229C>T

3 papers

NM_001143981.2

p.C80*

c.240T>A