Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.A294T

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
2 papers
NM_000420.3
p.A294T
c.880G>A
Surrounding Variants
1 paper
NM_000420.3
p.A294S
c.880G>T
1 paper
NM_000420.3
p.A294P
c.880G>C
1 paper
NM_000420.3
p.A294V
c.881C>T
1 paper
NM_000420.3
p.A294G
c.881C>G
1 paper
NM_000420.3
p.A294E
c.881C>A
1 paper
NM_000420.3
p.R293L
c.878G>T
1 paper
NM_000420.3
p.R293P
c.878G>C
2 papers
NM_000420.3
p.R293Q
c.878G>A
8 papers
NM_000420.3
p.R293W
c.877C>T
1 paper
NM_000420.3
p.R293G
c.877C>G
1 paper
NM_000420.3
p.R292L
c.875G>T
1 paper
NM_000420.3
p.R292P
c.875G>C
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