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.N3438K

c.10314T>G

Surrounding Variants

1 paper

NM_005045.4

p.S3440P

c.10318T>C

2 papers

NM_005045.4

p.R3441Q

c.10322G>A

1 paper

NM_005045.4

p.R3441del1

c.10321_10322delTCG

1 paper

NM_005045.4

p.H3447D

c.10339C>G

22 papers

NM_005045.4

p.H3447R

c.10340A>G

1 paper

NM_005045.4

p.R3451*

c.10351A>T

1 paper

NM_005045.4

p.R3451T

c.10352G>C

1 paper

NM_005045.4

p.R3451K

c.10352G>A

2 papers

NM_005045.4

p.R3453*

c.10357C>T

4 papers

NM_005045.4

p.R3453Q

c.10358G>A

1 paper

NM_005045.4

p.L3456F

c.10366C>T

1 paper

NM_005045.4

p.R3457M

c.10370G>T