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.S1215L

c.3644C>T

Surrounding Variants

1 paper

NM_023068.4

p.R1229*

c.3685C>T

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.S1242T

c.3724T>A

1 paper

NM_023068.4

p.L1180I

c.3538C>A

2 papers

NM_023068.4

p.N1251S

c.3752A>G

1 paper

NM_023068.4

p.A1269_A1270del2

c.3805_3809del6

1 paper

NM_023068.4

p.I1277M

c.3831C>G

1 paper

NM_023068.4

p.T1293P

c.3877A>C

1 paper

NM_023068.4

p.G1298S

c.3892G>A

1 paper

NM_023068.4

p.R1299H

c.3896G>A

3 papers

NM_023068.4

p.L1301P

c.3902T>C