Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.M301V

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
2 papers
NM_000420.3
p.M301V
c.901A>G
Surrounding Variants
1 paper
NM_000420.3
p.M301L
c.901A>T
1 paper
NM_000420.3
p.M301L
c.901A>C
1 paper
NM_000420.3
p.M301T
c.902T>C
1 paper
NM_000420.3
p.M301I
c.903G>T
1 paper
NM_000420.3
p.M301fs
c.901_902fs
1 paper
NM_000420.3
p.M301I
c.903G>C
1 paper
NM_000420.3
p.M301I
c.903G>A
1 paper
NM_000420.3
p.V302F
c.904G>T
1 paper
NM_000420.3
p.V302L
c.904G>C
1 paper
NM_000420.3
p.Q300*
c.898C>T
1 paper
NM_000420.3
p.V302G
c.905T>G
9 papers
NM_000420.3
p.V302A
c.905T>C
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