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

8 papers

NM_005045.4

p.S630R

c.1890T>A

Surrounding Variants

8 papers

NM_005045.4

p.S630R

c.1890T>G

8 papers

NM_005045.4

p.S630R

c.1888A>C

1 paper

NM_005045.4

p.Y629F

c.1886A>T

1 paper

NM_005045.4

p.S621I

c.1862G>T

1 paper

NM_005045.4

p.H620N

c.1858C>A

1 paper

NM_005045.4

p.L609S

c.1826T>C

1 paper

NM_005045.4

p.T606I

c.1817C>T

1 paper

NM_005045.4

p.S602F

c.1805C>T

1 paper

NM_005045.4

p.W601*

c.1803G>A

1 paper

NM_005045.4

p.W601*

c.1802G>A

6 papers

NM_005045.4

p.S600F

c.1799C>T

1 paper

NM_005045.4

p.R599H

c.1796G>A