Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.W732L

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.W732L
c.2195G>T
Surrounding Variants
1 paper
NM_000420.3
p.W732R
c.2194T>C
1 paper
NM_000420.3
p.W732R
c.2194T>A
1 paper
NM_000420.3
p.C729F
c.2186G>T
1 paper
NM_000420.3
p.C729Y
c.2186G>A
1 paper
NM_000420.3
p.R728L
c.2183G>T
1 paper
NM_000420.3
p.R728P
c.2183G>C
2 papers
NM_000420.3
p.R728H
c.2183G>A
1 paper
NM_000420.3
p.R728C
c.2182C>T
1 paper
NM_000420.3
p.R728G
c.2182C>G
1 paper
NM_000420.3
p.R728S
c.2182C>A
1 paper
NM_000420.3
p.S727I
c.2180G>T
1 paper
NM_000420.3
p.S727G
c.2179A>G
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