Varaico: Literature-Extracted Genetic Variants

SIGLEC12

82 papers

RefSeq Summary

Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selective...

Pfam Domains

V-setaa 27–142UCSCImmunoglobulin V-set domain

V-setaa 154–269UCSCImmunoglobulin V-set domain

Ig_3aa 380–450UCSCImmunoglobulin domain

SIGLECL1_Caa 466–531UCSCSIGLEC family-like protein 1 C-terminal domain

Gene Aliases

HGNC Name

sialic acid binding Ig like lectin 12

HGNC Alias Symbols

SLG; S2V; Siglec-XII; Siglec-12; Siglec-L1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 107 variants

5 papers

NM_053003.4

p.A66fs

c.196_197fs

4 papers

NM_053003.4

p.A66insFs

c.196dupG

3 papers

NM_053003.4

p.R65G

c.193C>G

3 papers

NM_053003.4

p.R65R

c.193C>A

3 papers

NM_053003.4

p.R92*

c.274C>T

2 papers

NM_053003.4

p.Q29*

c.85C>T

2 papers

NM_053003.4

p.A77T

c.229G>A

2 papers

NM_053003.4

p.C299S

c.895T>A

2 papers

NM_053003.4

p.C299S

c.896G>C

2 papers

NM_053003.4

p.M353I

c.1059G>T

2 papers

NM_053003.4

p.M353I

c.1059G>C

2 papers

NM_053003.4

p.M353I

c.1059G>A