Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.F618S

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.F618S
c.1853T>C
Surrounding Variants
1 paper
NM_000420.3
p.F618L
c.1854T>G
1 paper
NM_000420.3
p.F618V
c.1852T>G
1 paper
NM_000420.3
p.F618L
c.1852T>C
2 papers
NM_000420.3
p.F618I
c.1852T>A
1 paper
NM_000420.3
p.F618L
c.1854T>A
1 paper
NM_000420.3
p.P619S
c.1855C>T
1 paper
NM_000420.3
p.P619A
c.1855C>G
1 paper
NM_000420.3
p.P619T
c.1855C>A
1 paper
NM_000420.3
p.P619L
c.1856C>T
1 paper
NM_000420.3
p.A617V
c.1850C>T
1 paper
NM_000420.3
p.A617G
c.1850C>G
1 paper
NM_000420.3
p.A617D
c.1850C>A
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