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.Y669Y

c.2007T>C

Surrounding Variants

1 paper

NM_005045.4

p.V668Splc

c.2003-2A>G

9 papers

NM_005045.4

p.P672L

c.2015C>T

1 paper

NM_005045.4

p.R681K

c.2042G>A

1 paper

NM_005045.4

p.G688S

c.2062G>A

1 paper

NM_005045.4

p.K690N

c.2070G>T

1 paper

NM_005045.4

p.K690N

c.2070G>C

1 paper

NM_005045.4

p.C700Y

c.2099G>A

1 paper

NM_005045.4

p.E701A

c.2102A>C

1 paper

NM_005045.4

p.F707L

c.2119T>C

1 paper

NM_005045.4

p.F707L

c.2121C>G

1 paper

NM_005045.4

p.F707L

c.2121C>A

1 paper

NM_005045.4

p.M709V

c.2125A>G