Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.E494V

KEL

327 papers

RefSeq Summary

This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that ...

Pfam Domains

Peptidase_M13_Naa 99–482UCSCPeptidase family M13
Peptidase_M13aa 540–731UCSCPeptidase family M13

Gene Aliases

HGNC Name

Kell metallo-endopeptidase

HGNC Alias Symbols

ECE3; CD238

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_000420.3
p.E494V
c.1481A>T
Surrounding Variants
1 paper
NM_000420.3
p.E494G
c.1481A>G
1 paper
NM_000420.3
p.E494A
c.1481A>C
1 paper
NM_000420.3
p.E494Q
c.1480G>C
1 paper
NM_000420.3
p.E494K
c.1480G>A
1 paper
NM_000420.3
p.Q493P
c.1478A>C
5 papers
NM_000420.3
p.Q493*
c.1477C>T
1 paper
NM_000420.3
p.Y495*
c.1485C>G
1 paper
NM_000420.3
p.Q493E
c.1477C>G
2 papers
NM_000420.3
p.Q493K
c.1477C>A
1 paper
NM_000420.3
p.Y495*
c.1485C>A
1 paper
NM_000420.3
p.N496Y
c.1486A>T
1 paper
NM_000420.3
p.R492L
c.1475G>T
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