Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.W179R

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.W179R
c.535T>A
Surrounding Variants
1 paper
NM_000420.3
p.W179R
c.535T>C
1 paper
NM_000420.3
p.W179*
c.536G>A
1 paper
NM_000420.3
p.W179*
c.537G>A
1 paper
NM_000420.3
p.R180C
c.538C>T
2 papers
NM_000420.3
p.R180L
c.539G>T
4 papers
NM_000420.3
p.R180P
c.539G>C
3 papers
NM_000420.3
p.R180H
c.539G>A
1 paper
NM_000420.3
p.I181V
c.541A>G
1 paper
NM_000420.3
p.L176F
c.526C>T
3 papers
NM_000420.3
p.E175_L176Splc
c.526-2A>G
1 paper
NM_000420.3
p.G183A
c.548G>C
1 paper
NM_000420.3
p.G183fs
c.547_548fs
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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."