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

1–12 of 50 variants

2 papers

NM_001245.7

p.M142I

c.426G>T

2 papers

NM_001245.7

p.M142I

c.426G>C

2 papers

NM_001245.7

p.M142I

c.426G>A

2 papers

NM_001245.7

p.L262F

c.784C>T

2 papers

NM_001245.7

p.R271Q

c.812G>A

1 paper

NM_001245.7

p.Q5*

c.13C>T

1 paper

NM_001245.7

p.E6K

c.16G>A

1 paper

NM_001245.7

p.S10*

c.29C>G

1 paper

NM_001245.7

p.S10*

c.29C>A

1 paper

NM_001245.7

p.R29Q

c.86G>A

1 paper

NM_001245.7

p.R30S

c.90A>T

1 paper

NM_001245.7

p.R30S

c.90A>C