Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.P488A

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.P488A
c.1462C>G
Surrounding Variants
1 paper
NM_000420.3
p.P488S
c.1462C>T
1 paper
NM_000420.3
p.P488R
c.1463C>G
1 paper
NM_000420.3
p.L486_P488delFs
c.1457_1464del8
1 paper
NM_000420.3
p.L486fs
c.1456_1457fs
1 paper
NM_000420.3
p.L486R
c.1457T>G
1 paper
NM_000420.3
p.L486P
c.1457T>C
1 paper
NM_000420.3
p.L486Q
c.1457T>A
1 paper
NM_000420.3
p.E489D
c.1467G>T
1 paper
NM_000420.3
p.E489D
c.1467G>C
1 paper
NM_000420.3
p.L486V
c.1456C>G
1 paper
NM_000420.3
p.A491T
c.1471G>A
3 papers
NM_000420.3
p.R492*
c.1474C>T
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