Varaico: Literature-Extracted Genetic Variants

CELSR2

289 papers

RefSeq Summary

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not in...

Pfam Domains

Cadherinaa 186–280UCSCCadherin domain

Cadherinaa 294–390UCSCCadherin domain

Cadherinaa 404–496UCSCCadherin domain

Cadherinaa 510–601UCSCCadherin domain

Cadherinaa 615–703UCSCCadherin domain

Cadherinaa 717–806UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin EGF LAG seven-pass G-type receptor 2

HGNC Previous Symbol

EGFL2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 458 variants

8 papers

NM_001408.3

p.T12ins1

c.34_35insCGC

8 papers

NM_001408.3

p.P1201L

c.3602C>T

7 papers

NM_001408.3

p.E307*

c.919G>T

6 papers

NM_001408.3

p.V598M

c.1792G>A

6 papers

NM_001408.3

p.T631M

c.1892C>T

6 papers

NM_001408.3

p.T695M

c.2084C>T

6 papers

NM_001408.3

p.Y1639H

c.4915T>C

6 papers

NM_001408.3

p.R2015K

c.6044G>A

5 papers

NM_001408.3

p.L17P

c.50T>C

5 papers

NM_001408.3

p.N953S

c.2858A>G

5 papers

NM_001408.3

p.L1014H

c.3041T>A

5 papers

NM_001408.3

p.H1267R

c.3800A>G