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

1–12 of 1088 variants

22 papers

NM_005045.4

p.H3447R

c.10340A>G

15 papers

NM_005045.4

p.L997V

c.2989C>G

11 papers

NM_005045.4

p.N1159K

c.3477C>A

11 papers

NM_005045.4

p.R2290C

c.6868C>T

10 papers

NM_005045.4

p.Q417*

c.1249C>T

10 papers

NM_005045.4

p.N1159K

c.3477C>G

10 papers

NM_005045.4

p.P1703R

c.5108C>G

9 papers

NM_005045.4

p.T468P

c.1402A>C

9 papers

NM_005045.4

p.P672L

c.2015C>T

9 papers

NM_005045.4

p.V1762I

c.5284G>A

9 papers

NM_005045.4

p.R2955C

c.8863C>T

8 papers

NM_005045.4

p.S630R

c.1888A>C