Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.E249*

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.E249*
c.745G>T
Surrounding Variants
1 paper
NM_000420.3
p.E249Q
c.745G>C
1 paper
NM_000420.3
p.E249K
c.745G>A
1 paper
NM_000420.3
p.R248L
c.743G>T
1 paper
NM_000420.3
p.R248P
c.743G>C
3 papers
NM_000420.3
p.R248Q
c.743G>A
1 paper
NM_000420.3
p.Y250H
c.748T>C
2 papers
NM_000420.3
p.R248W
c.742C>T
1 paper
NM_000420.3
p.R248G
c.742C>G
1 paper
NM_000420.3
p.T252S
c.754A>T
1 paper
NM_000420.3
p.T252P
c.754A>C
1 paper
NM_000420.3
p.Q245_I246Splc
c.736-1G>C
1 paper
NM_000420.3
p.T252S
c.755C>G
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