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.F43_S44insFs

c.129_130ins4

Surrounding Variants

1 paper

NM_023068.4

p.D48E

c.144C>G

1 paper

NM_023068.4

p.V49M

c.145G>A

1 paper

NM_023068.4

p.L38I

c.112C>A

1 paper

NM_023068.4

p.G34W

c.100G>T

1 paper

NM_023068.4

p.I58M

c.174C>G

1 paper

NM_023068.4

p.P26P

c.78C>A

1 paper

NM_023068.4

p.S25G

c.73A>G

1 paper

NM_023068.4

p.W21L

c.62G>T

1 paper

NM_023068.4

p.V69G

c.206T>G

1 paper

NM_023068.4

p.S73P

c.217T>C

1 paper

NM_023068.4

p.K77E

c.229A>G

1 paper

NM_023068.4

p.A81T

c.241G>A