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.C876R

c.2626T>C

Surrounding Variants

1 paper

NM_023068.4

p.G872C

c.2614G>T

2 papers

NM_023068.4

p.R864*

c.2590C>T

1 paper

NM_023068.4

p.G848D

c.2543G>A

1 paper

NM_023068.4

p.H847N

c.2539C>A

1 paper

NM_023068.4

p.L826M

c.2476T>A

1 paper

NM_023068.4

p.R798H

c.2393G>A

1 paper

NM_023068.4

p.P796L

c.2387C>T

1 paper

NM_023068.4

p.Y794Splc

c.2381-2A>G

1 paper

NM_023068.4

p.V792V

c.2376A>C

1 paper

NM_023068.4

p.R775S

c.2323C>A

2 papers

NM_023068.4

p.V759M

c.2275G>A

1 paper

NM_023068.4

p.E757E

c.2271G>A