Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.P709Q

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.P709Q
c.2126C>A
Surrounding Variants
1 paper
NM_000420.3
p.P709L
c.2126C>T
1 paper
NM_000420.3
p.P709R
c.2126C>G
1 paper
NM_000420.3
p.P709S
c.2125C>T
1 paper
NM_000420.3
p.P709A
c.2125C>G
1 paper
NM_000420.3
p.P709T
c.2125C>A
1 paper
NM_000420.3
p.A710V
c.2129C>T
1 paper
NM_000420.3
p.T708I
c.2123C>T
2 papers
NM_000420.3
p.A710G
c.2129C>G
1 paper
NM_000420.3
p.T708S
c.2123C>G
1 paper
NM_000420.3
p.A710D
c.2129C>A
1 paper
NM_000420.3
p.T708N
c.2123C>A
1 paper
NM_000420.3
p.T708S
c.2122A>T
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