Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.M1T

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
9 papers
NM_000420.3
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_000420.3
p.M1I
c.3G>A
1 paper
NM_000420.3
p.M1_E2Splc
c.3+1G>A
1 paper
NM_000420.3
p.G3Fs
c.7delinsCCFs
1 paper
NM_000420.3
p.G4Fs
c.10delinsTATAGCTGTTATATAAAATTATTTAAFs
1 paper
NM_000420.3
p.G4G
c.12G>C
1 paper
NM_000420.3
p.G4G
c.12G>A
1 paper
NM_000420.3
p.D5H
c.13G>C
1 paper
NM_000420.3
p.E13K
c.37G>A
2 papers
NM_000420.3
p.R14C
c.40C>T
4 papers
NM_000420.3
p.R14H
c.41G>A
1 paper
NM_000420.3
p.G18D
c.53G>A
1 paper
NM_000420.3
p.G19R
c.55G>C
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