Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.L254R

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.L254R
c.761T>G
Surrounding Variants
1 paper
NM_000420.3
p.L254Q
c.761T>A
1 paper
NM_000420.3
p.L254V
c.760C>G
1 paper
NM_000420.3
p.L254M
c.760C>A
1 paper
NM_000420.3
p.Y253Y
c.759C>T
1 paper
NM_000420.3
p.N255I
c.764A>T
1 paper
NM_000420.3
p.Y253F
c.758A>T
1 paper
NM_000420.3
p.N255S
c.764A>G
1 paper
NM_000420.3
p.Y253C
c.758A>G
1 paper
NM_000420.3
p.N255T
c.764A>C
1 paper
NM_000420.3
p.Y253S
c.758A>C
1 paper
NM_000420.3
p.T252S
c.755C>G
1 paper
NM_000420.3
p.Q256R
c.767A>G
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