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

1–12 of 181 variants

7 papers

NM_023068.4

p.E88*

c.262G>T

3 papers

NM_023068.4

p.A974V

c.2921C>T

3 papers

NM_023068.4

p.R985C

c.2953C>T

3 papers

NM_023068.4

p.L1301P

c.3902T>C

2 papers

NM_023068.4

p.V221M

c.661G>A

2 papers

NM_023068.4

p.Q263R

c.788A>G

2 papers

NM_023068.4

p.E724K

c.2170G>A

2 papers

NM_023068.4

p.V759M

c.2275G>A

2 papers

NM_023068.4

p.R864*

c.2590C>T

2 papers

NM_023068.4

p.M1058L

c.3172A>T

2 papers

NM_023068.4

p.M1058L

c.3172A>C

2 papers

NM_023068.4

p.A1189V

c.3566C>T