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.R43H

c.128G>A

Surrounding Variants

1 paper

NM_001371762.2

p.R43C

c.127C>T

1 paper

NM_001371762.2

p.W41fs

c.121_122fs

3 papers

NM_001371762.2

p.W41insFs

c.121dupT

1 paper

NM_001371762.2

p.G46D

c.137G>A

1 paper

NM_001371762.2

p.S40fs

c.118_119fs

2 papers

NM_001371762.2

p.S40C

c.118A>T

1 paper

NM_001371762.2

p.L53L

c.157C>T

1 paper

NM_001371762.2

p.S59G

c.175A>G

1 paper

NM_001371762.2

p.P27L

c.80C>T

1 paper

NM_001371762.2

p.F26fs

c.76_77fs

1 paper

NM_001371762.2

p.D61A

c.182A>C

1 paper

NM_001371762.2

p.S62W

c.185C>G