Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.I223V

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.I223V
c.667A>G
Surrounding Variants
1 paper
NM_000420.3
p.Q224R
c.671A>G
1 paper
NM_000420.3
p.P221L
c.662C>T
1 paper
NM_000420.3
p.P221R
c.662C>G
1 paper
NM_000420.3
p.P221Q
c.662C>A
1 paper
NM_000420.3
p.Q224_I225Splc
c.672+1G>T
1 paper
NM_000420.3
p.P221S
c.661C>T
1 paper
NM_000420.3
p.P221A
c.661C>G
1 paper
NM_000420.3
p.P221T
c.661C>A
1 paper
NM_000420.3
p.T220I
c.659C>T
2 papers
NM_000420.3
p.T220R
c.659C>G
1 paper
NM_000420.3
p.T220K
c.659C>A
1 paper
NM_000420.3
p.T220A
c.658A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."