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.V196A

c.587T>C

Surrounding Variants

1 paper

NM_023068.4

p.T194T

c.582C>T

1 paper

NM_023068.4

p.P193L

c.578C>T

1 paper

NM_023068.4

p.T185A

c.553A>G

1 paper

NM_023068.4

p.L215fs

c.643_644fs

1 paper

NM_023068.4

p.L219I

c.655C>A

2 papers

NM_023068.4

p.V221M

c.661G>A

1 paper

NM_023068.4

p.Q227P

c.680A>C

1 paper

NM_023068.4

p.P147Q

c.440C>A

1 paper

NM_023068.4

p.A145V

c.434C>T

1 paper

NM_023068.4

p.G130D

c.389G>A

1 paper

NM_023068.4

p.R124H

c.371G>A

1 paper

NM_023068.4

p.E121Q

c.361G>C