Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.D497H

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
1 paper
NM_000420.3
p.D497H
c.1489G>C
Surrounding Variants
1 paper
NM_000420.3
p.D497Y
c.1489G>T
2 papers
NM_000420.3
p.D497N
c.1489G>A
1 paper
NM_000420.3
p.N496K
c.1488C>G
1 paper
NM_000420.3
p.N496K
c.1488C>A
1 paper
NM_000420.3
p.D497V
c.1490A>T
1 paper
NM_000420.3
p.D497G
c.1490A>G
1 paper
NM_000420.3
p.D497A
c.1490A>C
1 paper
NM_000420.3
p.N496I
c.1487A>T
1 paper
NM_000420.3
p.N496S
c.1487A>G
1 paper
NM_000420.3
p.N496T
c.1487A>C
1 paper
NM_000420.3
p.N496Y
c.1486A>T
1 paper
NM_000420.3
p.Y495*
c.1485C>G
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