Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.Y1157C

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.Y1157C
c.3470A>G
Surrounding Variants
10 papers
NM_005045.4
p.N1159K
c.3477C>G
11 papers
NM_005045.4
p.N1159K
c.3477C>A
1 paper
NM_005045.4
p.N1160S
c.3479A>G
1 paper
NM_005045.4
p.V1153I
c.3457G>A
1 paper
NM_005045.4
p.G1152G
c.3456C>A
1 paper
NM_005045.4
p.I1163T
c.3488T>C
1 paper
NM_005045.4
p.H1166Q
c.3498C>G
1 paper
NM_005045.4
p.H1166Q
c.3498C>A
1 paper
NM_005045.4
p.D1147H
c.3439G>C
1 paper
NM_005045.4
p.M1171I
c.3513G>T
1 paper
NM_005045.4
p.M1171I
c.3513G>C
1 paper
NM_005045.4
p.M1171I
c.3513G>A
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