Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC5
Variant:p.L198F

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.L198F
c.592C>T
Surrounding Variants
1 paper
NM_003830.4
p.S195T
c.583T>A
2 papers
NM_003830.4
p.T192N
c.575C>A
1 paper
NM_003830.4
p.E191K
c.571G>A
1 paper
NM_003830.4
p.L188P
c.563T>C
1 paper
NM_003830.4
p.G208_T209insFs
c.624_625insGG
1 paper
NM_003830.4
p.G208fs
c.622_623fs
1 paper
NM_003830.4
p.S186S
c.558C>T
3 papers
NM_003830.4
p.M215V
c.643A>G
1 paper
NM_003830.4
p.T177R
c.530C>G
1 paper
NM_003830.4
p.T224M
c.671C>T
1 paper
NM_003830.4
p.E155G
c.464A>G
1 paper
NM_003830.4
p.V126V
c.378A>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."