Varaico: Literature-Extracted Genetic Variants

SIGLEC1

167 papers

RefSeq Summary

This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manne...

Pfam Domains

V-setaa 24–136UCSCImmunoglobulin V-set domain

C2-set_2aa 142–228UCSCCD80-like C2-set immunoglobulin domain

Ig_2aa 242–323UCSCImmunoglobulin domain

Ig_2aa 327–408UCSCImmunoglobulin domain

I-setaa 417–507UCSCImmunoglobulin I-set domain

Ig_2aa 513–594UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

sialic acid binding Ig like lectin 1

HGNC Previous Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023068.4

p.R282C

c.844C>T

Surrounding Variants

1 paper

NM_023068.4

p.T287A

c.859A>G

1 paper

NM_023068.4

p.P269S

c.805C>T

1 paper

NM_023068.4

p.S266N

c.797G>A

2 papers

NM_023068.4

p.Q263R

c.788A>G

1 paper

NM_023068.4

p.L245L

c.735C>A

1 paper

NM_023068.4

p.F324I

c.970T>A

1 paper

NM_023068.4

p.K239R

c.716A>G

1 paper

NM_023068.4

p.A237V

c.710C>T

1 paper

NM_023068.4

p.P335L

c.1004C>T

1 paper

NM_023068.4

p.E338Q

c.1012G>C

1 paper

NM_023068.4

p.C346_S354del9

c.1036_1061del27

1 paper

NM_023068.4

p.Y358H

c.1072T>C