Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.Q306K

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.Q306K
c.916C>A
Surrounding Variants
1 paper
NM_000420.3
p.Q306*
c.916C>T
1 paper
NM_000420.3
p.Q306E
c.916C>G
1 paper
NM_000420.3
p.Q306R
c.917A>G
1 paper
NM_000420.3
p.Q306H
c.918G>T
1 paper
NM_000420.3
p.Q306H
c.918G>C
1 paper
NM_000420.3
p.D305V
c.914A>T
1 paper
NM_000420.3
p.D305G
c.914A>G
1 paper
NM_000420.3
p.D305A
c.914A>C
1 paper
NM_000420.3
p.D305Y
c.913G>T
1 paper
NM_000420.3
p.D305H
c.913G>C
4 papers
NM_000420.3
p.D305N
c.913G>A
1 paper
NM_000420.3
p.I304S
c.911T>G
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