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.A2284D

c.6851C>A

Surrounding Variants

1 paper

NM_005045.4

p.R2285H

c.6854G>A

2 papers

NM_005045.4

p.T2289I

c.6866C>T

11 papers

NM_005045.4

p.R2290C

c.6868C>T

8 papers

NM_005045.4

p.R2290H

c.6869G>A

4 papers

NM_005045.4

p.R2292C

c.6874C>T

3 papers

NM_005045.4

p.R2292H

c.6875G>A

1 paper

NM_005045.4

p.S2269F

c.6806C>T

1 paper

NM_005045.4

p.F2302I

c.6904T>A

1 paper

NM_005045.4

p.Q2262_E2263del1

c.6786_6788delTCC

1 paper

NM_005045.4

p.I2308S

c.6923T>G

1 paper

NM_005045.4

p.I2308I

c.6924C>A

2 papers

NM_005045.4

p.D2309N

c.6925G>A