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

4 papers

NM_005045.4

p.R1742W

c.5224C>T

Surrounding Variants

6 papers

NM_005045.4

p.R1742Q

c.5225G>A

2 papers

NM_005045.4

p.T1741N

c.5222C>A

1 paper

NM_005045.4

p.P1739L

c.5216C>T

1 paper

NM_005045.4

p.W1745*

c.5234G>A

1 paper

NM_005045.4

p.W1745*

c.5235G>A

5 papers

NM_005045.4

p.S1738F

c.5213C>T

1 paper

NM_005045.4

p.I1737I

c.5211T>C

1 paper

NM_005045.4

p.I1737Splc

c.5211-1G>T

1 paper

NM_005045.4

p.I1737Splc

c.5211-2A>T

1 paper

NM_005045.4

p.A1748G

c.5243C>G

1 paper

NM_005045.4

p.N1749S

c.5246A>G

1 paper

NM_005045.4

p.A1754fs

c.5260_5261fs