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.W58*

c.173G>A

Surrounding Variants

1 paper

NM_030893.4

p.W58*

c.174G>A

1 paper

NM_030893.4

p.G57A

c.170G>C

1 paper

NM_030893.4

p.Q63*

c.187C>T

1 paper

NM_030893.4

p.S53G

c.157A>G

1 paper

NM_030893.4

p.T64N

c.191C>A

1 paper

NM_030893.4

p.H52Y

c.154C>T

1 paper

NM_030893.4

p.H65Y

c.193C>T

1 paper

NM_030893.4

p.W50*

c.149G>A

1 paper

NM_030893.4

p.W67*

c.200G>A

1 paper

NM_030893.4

p.S49G

c.145A>G

1 paper

NM_030893.4

p.L71L

c.211T>C

1 paper

NM_030893.4

p.S43P

c.127T>C