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

10 papers

NM_005045.4

p.Q417*

c.1249C>T

Surrounding Variants

1 paper

NM_005045.4

p.E418K

c.1252G>A

2 papers

NM_005045.4

p.S421A

c.1261T>G

1 paper

NM_005045.4

p.S421T

c.1261T>A

1 paper

NM_005045.4

p.S412delFs

c.1234delA

5 papers

NM_005045.4

p.L411I

c.1231C>A

1 paper

NM_005045.4

p.F424_E425insFs

c.1272_1273ins4

1 paper

NM_005045.4

p.S426R

c.1276A>C

1 paper

NM_005045.4

p.S426R

c.1278C>G

1 paper

NM_005045.4

p.S426R

c.1278C>A

1 paper

NM_005045.4

p.R407W

c.1219A>T

1 paper

NM_005045.4

p.R407G

c.1219A>G

1 paper

NM_005045.4

p.A404D

c.1211C>A