Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.P663S

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.P663S
c.1987C>T
Surrounding Variants
1 paper
NM_000420.3
p.P663A
c.1987C>G
1 paper
NM_000420.3
p.P663T
c.1987C>A
1 paper
NM_000420.3
p.L662M
c.1984C>A
1 paper
NM_000420.3
p.S664I
c.1991G>T
1 paper
NM_000420.3
p.S664T
c.1991G>C
1 paper
NM_000420.3
p.S664N
c.1991G>A
1 paper
NM_000420.3
p.V661F
c.1981G>T
1 paper
NM_000420.3
p.V661L
c.1981G>C
1 paper
NM_000420.3
p.V661I
c.1981G>A
1 paper
NM_000420.3
p.L665P
c.1994T>C
1 paper
NM_000420.3
p.T660I
c.1979C>T
1 paper
NM_000420.3
p.T660S
c.1979C>G
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