Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC11
Variant:p.H141_S142delFs

SIGLEC11

40 papers

RefSeq Summary

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

Pfam Domains

V-setaa 37–153UCSCImmunoglobulin V-set domain
I-setaa 267–351UCSCImmunoglobulin I-set domain
Ig_3aa 373–440UCSCImmunoglobulin domain
SIGLECL1_Caa 552–604UCSCSIGLEC family-like protein 1 C-terminal domain

Gene Aliases

HGNC Name

sialic acid binding Ig like lectin 11

HGNC Previous Name

sialic acid binding Ig-like lectin 11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052884.3
p.H141_S142delFs
c.423_424delTA
Surrounding Variants
1 paper
NM_052884.3
p.N146I
c.437A>T
1 paper
NM_052884.3
p.A154Splc
c.460+10G>A
1 paper
NM_052884.3
p.E126Q
c.376G>C
1 paper
NM_052884.3
p.C114W
c.342C>G
1 paper
NM_052884.3
p.M97L
c.289A>T
5 papers
NM_052884.3
p.E96A
c.287A>C
1 paper
NM_052884.3
p.E96K
c.286G>A
4 papers
NM_052884.3
p.K157Q
c.469A>C
1 paper
NM_052884.3
p.D160H
c.478G>C
1 paper
NM_052884.3
p.P169S
c.505C>T
2 papers
NM_052884.3
p.P189S
c.565C>T
1 paper
NM_052884.3
p.P200delFs
c.600delA
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