Varaico: Literature-Extracted Genetic Variants

SIGLEC6

42 papers

RefSeq Summary

This gene encodes a member of the SIGLEC (sialic acid binding immunoglobulin-like lectin) family of proteins. The encoded transmembrane receptor binds sialyl-TN glycans and leptin. Placental expressio...

Pfam Domains

V-setaa 34–142UCSCImmunoglobulin V-set domain

igaa 152–228UCSCImmunoglobulin domain

I-setaa 253–336UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

sialic acid binding Ig like lectin 6

HGNC Previous Symbols

CD33L; CD33L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001245.7

p.L262F

c.784C>T

Surrounding Variants

1 paper

NM_001245.7

p.S261S

c.783C>T

1 paper

NM_001245.7

p.Q268R

c.803A>G

2 papers

NM_001245.7

p.R271Q

c.812G>A

1 paper

NM_001245.7

p.P281fs

c.841_842fs

1 paper

NM_001245.7

p.A295T

c.883G>A

1 paper

NM_001245.7

p.Q308R

c.923A>G

1 paper

NM_001245.7

p.T318P

c.952A>C

1 paper

NM_001245.7

p.Y236Splc

c.707-21G>A

1 paper

NM_001245.7

p.T225N

c.674C>A

1 paper

NM_001245.7

p.T218M

c.653C>T

1 paper

NM_001245.7

p.P206S

c.616C>T

1 paper

NM_001245.7

p.S189F

c.566C>T