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.R673C

c.2017C>T

Surrounding Variants

1 paper

NM_023068.4

p.N697N

c.2091C>T

1 paper

NM_023068.4

p.R641L

c.1922G>T

1 paper

NM_023068.4

p.P631fs

c.1891_1892fs

1 paper

NM_023068.4

p.P630A

c.1888C>G

1 paper

NM_023068.4

p.R619Q

c.1856G>A

1 paper

NM_023068.4

p.Y596Splc

c.1787-79T>C

2 papers

NM_023068.4

p.E724K

c.2170G>A

1 paper

NM_023068.4

p.E757E

c.2271G>A

2 papers

NM_023068.4

p.V759M

c.2275G>A

1 paper

NM_023068.4

p.R775S

c.2323C>A

1 paper

NM_023068.4

p.V792V

c.2376A>C

1 paper

NM_023068.4

p.Y794Splc

c.2381-2A>G