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.G524R

c.1570G>C

Surrounding Variants

1 paper

NM_023068.4

p.G524R

c.1570G>A

1 paper

NM_023068.4

p.A518S

c.1552G>T

1 paper

NM_023068.4

p.P517P

c.1551G>A

1 paper

NM_023068.4

p.P517L

c.1550C>T

1 paper

NM_023068.4

p.I515N

c.1544T>A

1 paper

NM_023068.4

p.A511T

c.1531G>A

1 paper

NM_023068.4

p.Y546*

c.1638C>G

1 paper

NM_023068.4

p.Y546*

c.1638C>A

1 paper

NM_023068.4

p.L552F

c.1654C>T

1 paper

NM_023068.4

p.L552I

c.1654C>A

1 paper

NM_023068.4

p.S558R

c.1672A>C

1 paper

NM_023068.4

p.S558R

c.1674C>G