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.A955D

c.2864C>A

Surrounding Variants

1 paper

NM_023068.4

p.T970A

c.2908A>G

3 papers

NM_023068.4

p.A974V

c.2921C>T

1 paper

NM_023068.4

p.R932W

c.2794C>T

1 paper

NM_023068.4

p.R929C

c.2785C>T

1 paper

NM_023068.4

p.H919P

c.2756A>C

3 papers

NM_023068.4

p.R985C

c.2953C>T

1 paper

NM_023068.4

p.L992R

c.2975T>G

1 paper

NM_023068.4

p.R999*

c.2995C>T

1 paper

NM_023068.4

p.P1034T

c.3100C>A

1 paper

NM_023068.4

p.P1047S

c.3139C>T

2 papers

NM_023068.4

p.M1058L

c.3172A>T

2 papers

NM_023068.4

p.M1058L

c.3172A>C