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.P2245R

c.6734C>G

Surrounding Variants

1 paper

NM_005045.4

p.S2243G

c.6727A>G

2 papers

NM_005045.4

p.R2242S

c.6726G>T

2 papers

NM_005045.4

p.R2242S

c.6726G>C

1 paper

NM_005045.4

p.V2238I

c.6712G>A

1 paper

NM_005045.4

p.N2253N

c.6759C>T

1 paper

NM_005045.4

p.C2234C

c.6702T>C

1 paper

NM_005045.4

p.R2231K

c.6692G>A

1 paper

NM_005045.4

p.Q2262_E2263del1

c.6786_6788delTCC

1 paper

NM_005045.4

p.R2224Splc

c.6672-1G>A

1 paper

NM_005045.4

p.R2224G

c.6670A>G

1 paper

NM_005045.4

p.S2269F

c.6806C>T

1 paper

NM_005045.4

p.A2284D

c.6851C>A