Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.H608Q

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.H608Q
c.1824C>A
Surrounding Variants
1 paper
NM_000420.3
p.H608Q
c.1824C>G
1 paper
NM_000420.3
p.L609M
c.1825C>A
1 paper
NM_000420.3
p.H608Y
c.1822C>T
1 paper
NM_000420.3
p.H608D
c.1822C>G
1 paper
NM_000420.3
p.H608N
c.1822C>A
1 paper
NM_000420.3
p.A607V
c.1820C>T
1 paper
NM_000420.3
p.A607G
c.1820C>G
1 paper
NM_000420.3
p.A607D
c.1820C>A
1 paper
NM_000420.3
p.C610Y
c.1829G>A
2 papers
NM_000420.3
p.L611R
c.1832T>G
1 paper
NM_000420.3
p.E606*
c.1816G>T
3 papers
NM_000420.3
p.E606Q
c.1816G>C
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