Varaico: Literature-Extracted Genetic Variants

RELN

729 papers

RefSeq Summary

This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein ma...

Pfam Domains

Reeleraa 48–184UCSCReeler domain

Reelin_subrepeat-Baa 224–351UCSCReelin subrepeat B

Reelin_subrepeat-Baa 435–560UCSCReelin subrepeat B

Reelin_subrepeat-Baa 563–671UCSCReelin subrepeat B

Reelin_subrepeat-Baa 731–862UCSCReelin subrepeat B

Reelin_subrepeat-Baa 888–1030UCSCReelin subrepeat B

Gene Aliases

HGNC Name

reelin

HGNC Alias Symbols

RL; PRO1598

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005045.4

p.T463N

c.1388C>A

Surrounding Variants

1 paper

NM_005045.4

p.S465F

c.1394C>T

4 papers

NM_005045.4

p.D467A

c.1400A>C

9 papers

NM_005045.4

p.T468P

c.1402A>C

1 paper

NM_005045.4

p.D467_T468delins

c.1400_1402delinsCCC

1 paper

NM_005045.4

p.T469P

c.1405A>C

1 paper

NM_005045.4

p.Y471D

c.1411T>G

1 paper

NM_005045.4

p.V452I

c.1354G>A

1 paper

NM_005045.4

p.S450L

c.1349C>T

1 paper

NM_005045.4

p.S450A

c.1348T>G

1 paper

NM_005045.4

p.G448G

c.1344C>G

1 paper

NM_005045.4

p.M480V

c.1438A>G

1 paper

NM_005045.4

p.I445_E446insGG

c.1333_1337ins6