Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.L34Q

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.L34Q
c.101T>A
Surrounding Variants
1 paper
NM_000420.3
p.P35L
c.104C>T
1 paper
NM_000420.3
p.P35P
c.105C>T
1 paper
NM_000420.3
p.E32D
c.96G>T
1 paper
NM_000420.3
p.E32D
c.96G>C
2 papers
NM_000420.3
p.V36M
c.106G>A
1 paper
NM_000420.3
p.P30S
c.88C>T
1 paper
NM_000420.3
p.T29P
c.85A>C
1 paper
NM_000420.3
p.P41T
c.121C>A
1 paper
NM_000420.3
p.W42L
c.125G>T
1 paper
NM_000420.3
p.W42*
c.125G>A
1 paper
NM_000420.3
p.A43V
c.128C>T
2 papers
NM_000420.3
p.R47W
c.139C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."