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

3 papers

NM_005045.4

p.R1782C

c.5344C>T

Surrounding Variants

2 papers

NM_005045.4

p.V1784Splc

c.5351+1G>A

1 paper

NM_005045.4

p.I1777T

c.5330T>C

3 papers

NM_005045.4

p.R1775*

c.5323C>T

3 papers

NM_005045.4

p.G1774E

c.5321G>A

1 paper

NM_005045.4

p.C1772R

c.5314T>C

1 paper

NM_005045.4

p.M1771fs

c.5311_5312fs

1 paper

NM_005045.4

p.W1770*

c.5310G>A

1 paper

NM_005045.4

p.W1770*

c.5309G>A

1 paper

NM_005045.4

p.P1769S

c.5305C>T

1 paper

NM_005045.4

p.C1768F

c.5303G>T

1 paper

NM_005045.4

p.S1766fs

c.5296_5297fs

1 paper

NM_005045.4

p.A1765T

c.5293G>A