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

1 paper

NM_014442.3

p.A362T

c.1084G>A

Surrounding Variants

1 paper

NM_014442.3

p.G365W

c.1093G>T

1 paper

NM_014442.3

p.L375M

c.1123C>A

1 paper

NM_014442.3

p.I379S

c.1136T>G

1 paper

NM_014442.3

p.I383V

c.1147A>G

3 papers

NM_014442.3

p.R388G

c.1162A>G

1 paper

NM_014442.3

p.S344F

c.1031C>T

1 paper

NM_014442.3

p.V320delFs

c.959_960delCA

1 paper

NM_014442.3

p.R317P

c.950G>C

1 paper

NM_014442.3

p.S308L

c.923C>T

1 paper

NM_014442.3

p.R306W

c.916C>T

1 paper

NM_014442.3

p.L302P

c.905T>C

1 paper

NM_014442.3

p.Q277H

c.831G>T