Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.R652M

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
2 papers
NM_000420.3
p.R652M
c.1955G>T
Surrounding Variants
1 paper
NM_000420.3
p.R652T
c.1955G>C
1 paper
NM_000420.3
p.R652K
c.1955G>A
1 paper
NM_000420.3
p.R652S
c.1956G>T
1 paper
NM_000420.3
p.R652S
c.1956G>C
1 paper
NM_000420.3
p.K651N
c.1953G>T
1 paper
NM_000420.3
p.K651N
c.1953G>C
1 paper
NM_000420.3
p.L653R
c.1958T>G
1 paper
NM_000420.3
p.L653P
c.1958T>C
1 paper
NM_000420.3
p.L653Q
c.1958T>A
1 paper
NM_000420.3
p.K651M
c.1952A>T
1 paper
NM_000420.3
p.K651R
c.1952A>G
1 paper
NM_000420.3
p.K651T
c.1952A>C
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