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

2 papers

NM_001371762.2

p.R219H

c.656G>A

Surrounding Variants

1 paper

NM_001371762.2

p.R219C

c.655C>T

1 paper

NM_001371762.2

p.Y230C

c.689A>G

1 paper

NM_001371762.2

p.P231R

c.692C>G

1 paper

NM_001371762.2

p.A207V

c.620C>T

1 paper

NM_001371762.2

p.K232N

c.696G>C

1 paper

NM_001371762.2

p.K232N

c.696G>T

1 paper

NM_001371762.2

p.W235L

c.704G>T

1 paper

NM_001371762.2

p.W238*

c.713G>A

1 paper

NM_001371762.2

p.W238*

c.714G>A

1 paper

NM_001371762.2

p.R240P

c.719G>C

1 paper

NM_001371762.2

p.E242V

c.725A>T

1 paper

NM_001371762.2

p.D252N

c.754G>A