Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.Q605R

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.Q605R
c.1814A>G
Surrounding Variants
1 paper
NM_000420.3
p.Q605L
c.1814A>T
1 paper
NM_000420.3
p.Q605P
c.1814A>C
1 paper
NM_000420.3
p.Q605insFs
c.1813_1814insC
1 paper
NM_000420.3
p.Q605H
c.1815G>T
1 paper
NM_000420.3
p.Q605H
c.1815G>C
1 paper
NM_000420.3
p.Q605fs
c.1813_1814fs
1 paper
NM_000420.3
p.E606*
c.1816G>T
3 papers
NM_000420.3
p.E606Q
c.1816G>C
1 paper
NM_000420.3
p.E606K
c.1816G>A
1 paper
NM_000420.3
p.L604R
c.1811T>G
1 paper
NM_000420.3
p.A607V
c.1820C>T
1 paper
NM_000420.3
p.A607G
c.1820C>G
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