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.R2955S

c.8863C>A

Surrounding Variants

9 papers

NM_005045.4

p.R2955C

c.8863C>T

1 paper

NM_005045.4

p.W2953*

c.8859G>A

1 paper

NM_005045.4

p.W2953*

c.8858G>A

1 paper

NM_005045.4

p.G2957C

c.8869G>T

1 paper

NM_005045.4

p.F2949fs

c.8845_8846fs

1 paper

NM_005045.4

p.K2948Splc

c.8844-1G>A

2 papers

NM_005045.4

p.K2948Splc

c.8844-2A>G

1 paper

NM_005045.4

p.S2964P

c.8890T>C

1 paper

NM_005045.4

p.R2967C

c.8899C>T

1 paper

NM_005045.4

p.P2968L

c.8903C>T

1 paper

NM_005045.4

p.R2971Q

c.8912G>A

2 papers

NM_005045.4

p.K2972T

c.8915A>C