Varaico: Literature-Extracted Genetic Variants

CD1E

57 papers

RefSeq Summary

This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-mic...

Pfam Domains

MHC_I_3aa 19–204UCSCMHC-I family domain

C1-setaa 219–292UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

CD1e molecule

HGNC Previous Names

CD1E antigen, e polypeptide; CD1e antigen

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030893.4

p.G152A

c.455G>C

Surrounding Variants

1 paper

NM_030893.4

p.S149N

c.446G>A

1 paper

NM_030893.4

p.E156D

c.468G>C

1 paper

NM_030893.4

p.E156D

c.468G>T

1 paper

NM_030893.4

p.D146E

c.438T>A

1 paper

NM_030893.4

p.D146E

c.438T>G

1 paper

NM_030893.4

p.D146N

c.436G>A

1 paper

NM_030893.4

p.R164L

c.491G>T

1 paper

NM_030893.4

p.C169R

c.505T>C

1 paper

NM_030893.4

p.R174L

c.521G>T

1 paper

NM_030893.4

p.L182Q

c.545T>A

1 paper

NM_030893.4

p.P120L

c.359C>T

1 paper

NM_030893.4

p.T189N

c.566C>A