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.I1134T

c.3401T>C

Surrounding Variants

1 paper

NM_023068.4

p.P1153T

c.3457C>A

1 paper

NM_023068.4

p.P1114P

c.3342G>T

1 paper

NM_023068.4

p.V1168I

c.3502G>A

1 paper

NM_023068.4

p.R1098Q

c.3293G>A

1 paper

NM_023068.4

p.W1092*

c.3276G>A

1 paper

NM_023068.4

p.V1089_W1092delFs

c.3266_3275del10

1 paper

NM_023068.4

p.W1092*

c.3275G>A

1 paper

NM_023068.4

p.V1089fs

c.3265_3266fs

1 paper

NM_023068.4

p.L1180I

c.3538C>A

2 papers

NM_023068.4

p.A1189V

c.3566C>T

1 paper

NM_023068.4

p.A1189G

c.3566C>G

1 paper

NM_023068.4

p.S1215L

c.3644C>T