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.Q29*

c.85C>T

Surrounding Variants

1 paper

NM_053003.4

p.Q21_T27del7

c.61_80del21

1 paper

NM_053003.4

p.L25delFs

c.73_74delAG

1 paper

NM_053003.4

p.G37D

c.110G>A

1 paper

NM_053003.4

p.C39R

c.115T>C

1 paper

NM_053003.4

p.G17W

c.49G>T

1 paper

NM_053003.4

p.L43F

c.127C>T

1 paper

NM_053003.4

p.S47Y

c.140C>A

1 paper

NM_053003.4

p.L7_P9delFs

c.21_27del7

1 paper

NM_053003.4

p.L7fs

c.19_20fs

1 paper

NM_053003.4

p.L6Q

c.17T>A

1 paper

NM_053003.4

p.L3L

c.7C>T

1 paper

NM_053003.4

p.A55delFs

c.163delC