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

1 paper

NM_001245.7

p.T225N

c.674C>A

Surrounding Variants

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

1 paper

NM_001245.7

p.T188insFs

c.562dupA

1 paper

NM_001245.7

p.T188fs

c.562_563fs

1 paper

NM_001245.7

p.P177insFs

c.529dupC

1 paper

NM_001245.7

p.P178P

c.534C>A

1 paper

NM_001245.7

p.P178L

c.533C>T

1 paper

NM_001245.7

p.P177S

c.529C>T

1 paper

NM_001245.7

p.T176M

c.527C>T

1 paper

NM_001245.7

p.C166F

c.497G>T

1 paper

NM_001245.7

p.Y236Splc

c.707-21G>A