Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.L289R

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.L289R
c.866T>G
Surrounding Variants
1 paper
NM_000420.3
p.L289P
c.866T>C
1 paper
NM_000420.3
p.L289Q
c.866T>A
1 paper
NM_000420.3
p.L289M
c.865C>A
1 paper
NM_000420.3
p.E290*
c.868G>T
1 paper
NM_000420.3
p.E290Q
c.868G>C
2 papers
NM_000420.3
p.E290K
c.868G>A
1 paper
NM_000420.3
p.E290V
c.869A>T
1 paper
NM_000420.3
p.E290D
c.870G>T
1 paper
NM_000420.3
p.E290D
c.870G>C
1 paper
NM_000420.3
p.P288S
c.862C>T
1 paper
NM_000420.3
p.P288A
c.862C>G
1 paper
NM_000420.3
p.P288T
c.862C>A
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