Varaico: Literature-Extracted Genetic Variants

Gene:CD1A
Variant:p.W40R

CD1A

74 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 1–197UCSCMHC-I family domain
C1-setaa 208–285UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

CD1a molecule

HGNC Previous Names

CD1A antigen, a polypeptide; CD1a antigen

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001763.3
p.W40R
c.118T>C
Surrounding Variants
1 paper
NM_001763.3
p.W40R
c.118T>A
1 paper
NM_001763.3
p.Q42*
c.124C>T
1 paper
NM_001763.3
p.A33T
c.97G>A
1 paper
NM_001763.3
p.I32I
c.96C>T
1 paper
NM_001763.3
p.W31*
c.93G>A
1 paper
NM_001763.3
p.W48*
c.143G>A
1 paper
NM_001763.3
p.W31*
c.92G>A
1 paper
NM_001763.3
p.W48*
c.144G>A
8 papers
NM_001763.3
p.T30I
c.89C>T
1 paper
NM_001763.3
p.L25fs
c.73_74fs
1 paper
NM_001763.3
p.S59R
c.175A>C
1 paper
NM_001763.3
p.S59G
c.175A>G
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