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

Selected Variant

3 papers

NM_053003.4

p.R65R

c.193C>A

Surrounding Variants

3 papers

NM_053003.4

p.R65G

c.193C>G

1 paper

NM_053003.4

p.R65Fs

c.193delinsAGFs

1 paper

NM_053003.4

p.F64insFs

c.191_192insT

1 paper

NM_053003.4

p.R65fs

c.193_194fs

1 paper

NM_053003.4

p.A66insFs

c.196_197insA

1 paper

NM_053003.4

p.A66T

c.196G>A

1 paper

NM_053003.4

p.A66fs

c.196_197fs

1 paper

NM_053003.4

p.A66G

c.197C>G

4 papers

NM_053003.4

p.A66insFs

c.196dupG

5 papers

NM_053003.4

p.A66fs

c.196_197fs

1 paper

NM_053003.4

p.R72Q

c.215G>A

1 paper

NM_053003.4

p.S56F

c.167C>T