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.S330F

c.989C>T

Surrounding Variants

1 paper

NM_001371762.2

p.Q332E

c.994C>G

1 paper

NM_001371762.2

p.R324W

c.970C>T

1 paper

NM_001371762.2

p.S323A

c.967T>G

1 paper

NM_001371762.2

p.T322S

c.965C>G

1 paper

NM_001371762.2

p.T322A

c.964A>G

1 paper

NM_001371762.2

p.T322S

c.964A>T

1 paper

NM_001371762.2

p.G320V

c.959G>T

1 paper

NM_001371762.2

p.I318T

c.953T>C

1 paper

NM_001371762.2

p.T300S

c.898A>T

2 papers

NM_001371762.2

p.Q289H

c.867G>C

2 papers

NM_001371762.2

p.Q289H

c.867G>T

1 paper

NM_001371762.2

p.G288C

c.862G>T