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.S1756C

c.5267C>G

Surrounding Variants

1 paper

NM_005045.4

p.S1756S

c.5268C>G

1 paper

NM_005045.4

p.A1754fs

c.5260_5261fs

2 papers

NM_005045.4

p.A1758V

c.5273C>T

9 papers

NM_005045.4

p.V1762I

c.5284G>A

1 paper

NM_005045.4

p.N1749S

c.5246A>G

1 paper

NM_005045.4

p.A1748G

c.5243C>G

1 paper

NM_005045.4

p.A1765T

c.5293G>A

1 paper

NM_005045.4

p.S1766fs

c.5296_5297fs

1 paper

NM_005045.4

p.W1745*

c.5235G>A

1 paper

NM_005045.4

p.W1745*

c.5234G>A

1 paper

NM_005045.4

p.C1768F

c.5303G>T

1 paper

NM_005045.4

p.P1769S

c.5305C>T