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

1–12 of 60 variants

3 papers

NM_014442.3

p.M1_L2del1

c.2_4delGCA

3 papers

NM_014442.3

p.S170P

c.508T>C

3 papers

NM_014442.3

p.R388G

c.1162A>G

2 papers

NM_014442.3

p.R68W

c.202C>T

2 papers

NM_014442.3

p.G120R

c.358G>C

2 papers

NM_014442.3

p.G120R

c.358G>A

2 papers

NM_014442.3

p.R125W

c.373C>T

2 papers

NM_014442.3

p.T235M

c.704C>T

1 paper

NM_014442.3

p.M1delFs

c.1_2delAT

1 paper

NM_014442.3

p.M1_L2del2

c.1_5del6

1 paper

NM_014442.3

p.L2_L4del3

c.4_11del9

1 paper

NM_014442.3

p.L5_P9del0

c.14_25del12