Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC5
Variant:p.S306C

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.S306C
c.917C>G
Surrounding Variants
1 paper
NM_003830.4
p.G310E
c.929G>A
1 paper
NM_003830.4
p.L301R
c.902T>G
1 paper
NM_003830.4
p.R315R
c.945C>A
1 paper
NM_003830.4
p.P319P
c.957G>T
3 papers
NM_003830.4
p.F322S
c.965T>C
1 paper
NM_003830.4
p.Q324Q
c.972A>G
1 paper
NM_003830.4
p.P286H
c.857C>A
1 paper
NM_003830.4
p.A277fs
c.829_830fs
1 paper
NM_003830.4
p.A277fs
c.829_830fs
2 papers
NM_003830.4
p.P276insFs
c.827dupC
1 paper
NM_003830.4
p.P276fs
c.826_827fs
1 paper
NM_003830.4
p.C269Y
c.806G>A
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