Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.T303S

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.T303S
c.908C>G
Surrounding Variants
1 paper
NM_000420.3
p.T303S
c.907A>T
1 paper
NM_000420.3
p.T303A
c.907A>G
1 paper
NM_000420.3
p.T303P
c.907A>C
1 paper
NM_000420.3
p.I304F
c.910A>T
1 paper
NM_000420.3
p.I304V
c.910A>G
1 paper
NM_000420.3
p.I304L
c.910A>C
1 paper
NM_000420.3
p.I304S
c.911T>G
1 paper
NM_000420.3
p.V302G
c.905T>G
9 papers
NM_000420.3
p.V302A
c.905T>C
1 paper
NM_000420.3
p.I304T
c.911T>C
1 paper
NM_000420.3
p.I304N
c.911T>A
1 paper
NM_000420.3
p.V302D
c.905T>A
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