Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.Q688E

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.Q688E
c.2062C>G
Surrounding Variants
1 paper
NM_000420.3
p.Q688*
c.2062C>T
1 paper
NM_000420.3
p.Q688K
c.2062C>A
1 paper
NM_000420.3
p.Q688R
c.2063A>G
1 paper
NM_000420.3
p.P687L
c.2060C>T
3 papers
NM_000420.3
p.D689Y
c.2065G>T
1 paper
NM_000420.3
p.D689H
c.2065G>C
1 paper
NM_000420.3
p.D689N
c.2065G>A
1 paper
NM_000420.3
p.S690P
c.2068T>C
1 paper
NM_000420.3
p.P685L
c.2054C>T
1 paper
NM_000420.3
p.H691Y
c.2071C>T
1 paper
NM_000420.3
p.P685S
c.2053C>T
1 paper
NM_000420.3
p.H691Q
c.2073C>G
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