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.F1722L

c.5164T>C

Surrounding Variants

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

8 papers

NM_005045.4

p.S1719L

c.5156C>T

1 paper

NM_005045.4

p.T1718N

c.5153C>A

2 papers

NM_005045.4

p.R1727W

c.5179C>T

1 paper

NM_005045.4

p.R1727G

c.5179C>G

4 papers

NM_005045.4

p.R1727Q

c.5180G>A

1 paper

NM_005045.4

p.T1712M

c.5135C>T

2 papers

NM_005045.4

p.L1732F

c.5194C>T

3 papers

NM_005045.4

p.L1734V

c.5200C>G

1 paper

NM_005045.4

p.I1706T

c.5117T>C