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

2 papers

NM_005045.4

p.A985G

c.2954C>G

Surrounding Variants

1 paper

NM_005045.4

p.I982L

c.2944A>C

1 paper

NM_005045.4

p.S981C

c.2941A>T

1 paper

NM_005045.4

p.A980S

c.2938G>T

1 paper

NM_005045.4

p.W991*

c.2972G>A

1 paper

NM_005045.4

p.W991*

c.2973G>A

1 paper

NM_005045.4

p.R993G

c.2977A>G

1 paper

NM_005045.4

p.R993T

c.2978G>C

1 paper

NM_005045.4

p.R993K

c.2978G>A

1 paper

NM_005045.4

p.E976K

c.2926G>A

1 paper

NM_005045.4

p.L997F

c.2989C>T

15 papers

NM_005045.4

p.L997V

c.2989C>G

1 paper

NM_005045.4

p.P972A

c.2914C>G