Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC5
Variant:p.N100D

SIGLEC5

62 papers

RefSeq Summary

This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like doma...

Pfam Domains

V-setaa 24–140UCSCImmunoglobulin V-set domain
Ig_3aa 249–318UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

sialic acid binding Ig like lectin 5

HGNC Previous Symbol

CD33L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003830.4
p.N100D
c.298A>G
Surrounding Variants
1 paper
NM_003830.4
p.R109G
c.325A>G
1 paper
NM_003830.4
p.G114*
c.340G>T
1 paper
NM_003830.4
p.R119H
c.356G>A
1 paper
NM_003830.4
p.R80G
c.238A>G
1 paper
NM_003830.4
p.G123R
c.367G>C
1 paper
NM_003830.4
p.G123R
c.367G>A
1 paper
NM_003830.4
p.V126V
c.378A>C
1 paper
NM_003830.4
p.V72A
c.215T>C
1 paper
NM_003830.4
p.D63N
c.187G>A
1 paper
NM_003830.4
p.E22D
c.66G>T
1 paper
NM_003830.4
p.E22D
c.66G>C
1 paper
NM_003830.4
p.G13R
c.37G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."