Varaico: Literature-Extracted Genetic Variants

SIGLEC8

53 papers

RefSeq Summary

Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic...

Pfam Domains

V-setaa 30–142UCSCImmunoglobulin V-set domain

igaa 162–237UCSCImmunoglobulin domain

Ig_3aa 265–332UCSCImmunoglobulin domain

SIGLECL1_Caa 348–415UCSCSIGLEC family-like protein 1 C-terminal domain

Gene Aliases

HGNC Name

sialic acid binding Ig like lectin 8

HGNC Alias Symbols

SIGLEC-8; SAF2; SIGLEC8L; MGC59785

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014442.3

p.G120R

c.358G>A

Surrounding Variants

2 papers

NM_014442.3

p.G120R

c.358G>C

1 paper

NM_014442.3

p.R117S

c.351G>T

1 paper

NM_014442.3

p.R117S

c.351G>C

2 papers

NM_014442.3

p.R125W

c.373C>T

1 paper

NM_014442.3

p.S130delFs

c.388delT

1 paper

NM_014442.3

p.S130fs

c.388_389fs

1 paper

NM_014442.3

p.D106N

c.316G>A

1 paper

NM_014442.3

p.S137L

c.410C>T

1 paper

NM_014442.3

p.N83Y

c.247A>T

1 paper

NM_014442.3

p.T81R

c.242C>G

2 papers

NM_014442.3

p.R68W

c.202C>T

1 paper

NM_014442.3

p.P61L

c.182C>T