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.R92*

c.274C>T

Surrounding Variants

1 paper

NM_053003.4

p.L96F

c.286C>T

1 paper

NM_053003.4

p.P81T

c.241C>A

1 paper

NM_053003.4

p.N79K

c.237C>G

1 paper

NM_053003.4

p.N79K

c.237C>A

2 papers

NM_053003.4

p.A77T

c.229G>A

1 paper

NM_053003.4

p.N73_I74del2

c.217_221del6

1 paper

NM_053003.4

p.R72Q

c.215G>A

5 papers

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

1 paper

NM_053003.4

p.A66insFs

c.196_197insA

1 paper

NM_053003.4

p.A66T

c.196G>A