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

2 papers

NM_053003.4

p.C299S

c.895T>A

Surrounding Variants

2 papers

NM_053003.4

p.C299S

c.896G>C

1 paper

NM_053003.4

p.E284Q

c.850G>C

1 paper

NM_053003.4

p.V314M

c.940G>A

1 paper

NM_053003.4

p.T282P

c.844A>C

1 paper

NM_053003.4

p.M274I

c.822G>T

1 paper

NM_053003.4

p.M274I

c.822G>C

1 paper

NM_053003.4

p.M274I

c.822G>A

1 paper

NM_053003.4

p.L327I

c.979C>A

1 paper

NM_053003.4

p.L329F

c.985C>T

1 paper

NM_053003.4

p.L329R

c.986T>G

1 paper

NM_053003.4

p.L329P

c.986T>C

1 paper

NM_053003.4

p.P333fs

c.997_998fs