Varaico: Literature-Extracted Genetic Variants

SIGLEC11

40 papers

RefSeq Summary

This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and s...

Pfam Domains

V-setaa 37–153UCSCImmunoglobulin V-set domain

I-setaa 267–351UCSCImmunoglobulin I-set domain

Ig_3aa 373–440UCSCImmunoglobulin domain

SIGLECL1_Caa 552–604UCSCSIGLEC family-like protein 1 C-terminal domain

Gene Aliases

HGNC Name

sialic acid binding Ig like lectin 11

HGNC Previous Name

sialic acid binding Ig-like lectin 11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001135163.1

p.D504N

c.1510G>A

NM_052884.3

p.D600N

c.1798G>A

Surrounding Variants

1 paper

NM_052884.3

p.C587*

c.1761C>A

1 paper

NM_052884.3

p.V581I

c.1741G>A

1 paper

NM_052884.3

p.G562G

c.1686G>A

1 paper

NM_052884.3

p.L559P

c.1676T>C

1 paper

NM_052884.3

p.G635insFs

c.1905dupG

1 paper

NM_052884.3

p.K636fs

c.1906_1907fs

1 paper

NM_052884.3

p.E504K

c.1510G>A

1 paper

NM_052884.3

p.W487C

c.1461G>T

1 paper

NM_052884.3

p.W487C

c.1461G>C

1 paper

NM_052884.3

p.E467E

c.1401G>A

1 paper

NM_052884.3

p.E467delFs

c.1399delC

1 paper

NM_052884.3

p.W466*

c.1398G>A