Varaico: Literature-Extracted Genetic Variants

CD1D

72 papers

RefSeq Summary

This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with ...

Pfam Domains

MHC_I_3aa 1–94UCSCMHC-I family domain

MHC_I_3aa 1–198UCSCMHC-I family domain

C1-setaa 209–286UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

CD1d molecule

HGNC Previous Names

CD1D antigen, d polypeptide; CD1d antigen

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001371762.2

p.F131I

c.391T>A

Surrounding Variants

1 paper

NM_001371762.2

p.F132L

c.394T>C

1 paper

NM_001371762.2

p.F132L

c.396C>A

1 paper

NM_001371762.2

p.F132L

c.396C>G

1 paper

NM_001371762.2

p.Q137*

c.409C>T

1 paper

NM_001371762.2

p.P124L

c.371C>T

1 paper

NM_001371762.2

p.D140N

c.418G>A

2 papers

NM_001371762.2

p.A118T

c.352G>A

1 paper

NM_001371762.2

p.A118S

c.352G>T

1 paper

NM_001371762.2

p.T147S

c.439A>T

1 paper

NM_001371762.2

p.T147S

c.440C>G

1 paper

NM_001371762.2

p.W149*

c.446G>A

1 paper

NM_001371762.2

p.W149*

c.447G>A