Varaico: Literature-Extracted Genetic Variants

CELSR3

211 papers

RefSeq Summary

This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are pla...

Pfam Domains

Cadherinaa 330–424UCSCCadherin domain

Cadherinaa 438–536UCSCCadherin domain

Cadherinaa 550–642UCSCCadherin domain

Cadherinaa 656–747UCSCCadherin domain

Cadherinaa 761–849UCSCCadherin domain

Cadherinaa 863–952UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin EGF LAG seven-pass G-type receptor 3

HGNC Previous Symbol

EGFL1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 369 variants

6 papers

NM_001407.3

p.M2630I

c.7890G>T

6 papers

NM_001407.3

p.M2630I

c.7890G>C

6 papers

NM_001407.3

p.M2630I

c.7890G>A

5 papers

NM_001407.3

p.T654M

c.1961C>T

3 papers

NM_001407.3

p.V744M

c.2230G>A

3 papers

NM_001407.3

p.R783H

c.2348G>A

3 papers

NM_001407.3

p.S805T

c.2414G>C

3 papers

NM_001407.3

p.G2136D

c.6407G>A

3 papers

NM_001407.3

p.V2438I

c.7312G>A

3 papers

NM_001407.3

p.R2779Q

c.8336G>A

3 papers

NM_001407.3

p.R3160C

c.9478C>T

3 papers

NM_001407.3

p.P3276L

c.9827C>T