Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.A598P

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.A598P
c.1792G>C
Surrounding Variants
1 paper
NM_000420.3
p.A598S
c.1792G>T
5 papers
NM_000420.3
p.A598T
c.1792G>A
1 paper
NM_000420.3
p.A598V
c.1793C>T
1 paper
NM_000420.3
p.L597R
c.1790T>G
16 papers
NM_000420.3
p.L597P
c.1790T>C
1 paper
NM_000420.3
p.L597H
c.1790T>A
1 paper
NM_000420.3
p.C599Y
c.1796G>A
1 paper
NM_000420.3
p.C596Y
c.1787G>A
1 paper
NM_000420.3
p.G595S
c.1783G>A
1 paper
NM_000420.3
p.G594V
c.1781G>T
1 paper
NM_000420.3
p.G594A
c.1781G>C
1 paper
NM_000420.3
p.G594E
c.1781G>A
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