Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.G296D

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.G296D
c.887G>A
Surrounding Variants
1 paper
NM_000420.3
p.G296V
c.887G>T
1 paper
NM_000420.3
p.G296A
c.887G>C
1 paper
NM_000420.3
p.G296C
c.886G>T
1 paper
NM_000420.3
p.G296R
c.886G>C
1 paper
NM_000420.3
p.G296S
c.886G>A
1 paper
NM_000420.3
p.L298F
c.892C>T
1 paper
NM_000420.3
p.L298V
c.892C>G
1 paper
NM_000420.3
p.L298I
c.892C>A
1 paper
NM_000420.3
p.L298R
c.893T>G
1 paper
NM_000420.3
p.L298P
c.893T>C
1 paper
NM_000420.3
p.L298H
c.893T>A
1 paper
NM_000420.3
p.A294V
c.881C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."