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.T1712M

c.5135C>T

Surrounding Variants

1 paper

NM_005045.4

p.I1706T

c.5117T>C

1 paper

NM_005045.4

p.T1718N

c.5153C>A

8 papers

NM_005045.4

p.S1719L

c.5156C>T

10 papers

NM_005045.4

p.P1703R

c.5108C>G

1 paper

NM_005045.4

p.F1722L

c.5164T>C

1 paper

NM_005045.4

p.F1722L

c.5166C>G

1 paper

NM_005045.4

p.F1722L

c.5166C>A

1 paper

NM_005045.4

p.Q1723K

c.5167C>A

2 papers

NM_005045.4

p.E1699K

c.5095G>A

1 paper

NM_005045.4

p.T1698T

c.5094C>A

1 paper

NM_005045.4

p.T1698I

c.5093C>T

1 paper

NM_005045.4

p.V1697_T1698del1

c.5090_5092delTGA