Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.R292W

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.R292W
c.874C>T
Surrounding Variants
1 paper
NM_000420.3
p.R292G
c.874C>G
1 paper
NM_000420.3
p.R292L
c.875G>T
1 paper
NM_000420.3
p.R292P
c.875G>C
8 papers
NM_000420.3
p.R292Q
c.875G>A
8 papers
NM_000420.3
p.R293W
c.877C>T
1 paper
NM_000420.3
p.Q291*
c.871C>T
1 paper
NM_000420.3
p.R293G
c.877C>G
1 paper
NM_000420.3
p.R293L
c.878G>T
1 paper
NM_000420.3
p.E290D
c.870G>T
1 paper
NM_000420.3
p.R293P
c.878G>C
1 paper
NM_000420.3
p.E290D
c.870G>C
2 papers
NM_000420.3
p.R293Q
c.878G>A
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