Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.R700*

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
4 papers
NM_000420.3
p.R700*
c.2098C>T
Surrounding Variants
2 papers
NM_000420.3
p.R700G
c.2098C>G
1 paper
NM_000420.3
p.R700L
c.2099G>T
1 paper
NM_000420.3
p.R700P
c.2099G>C
3 papers
NM_000420.3
p.R700Q
c.2099G>A
1 paper
NM_000420.3
p.L699R
c.2096T>G
1 paper
NM_000420.3
p.L699P
c.2096T>C
1 paper
NM_000420.3
p.L699H
c.2096T>A
1 paper
NM_000420.3
p.V701I
c.2101G>A
2 papers
NM_000420.3
p.L699F
c.2095C>T
1 paper
NM_000420.3
p.L699V
c.2095C>G
1 paper
NM_000420.3
p.L699I
c.2095C>A
1 paper
NM_000420.3
p.V701A
c.2102T>C
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