Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.L705F

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.L705F
c.2113C>T
Surrounding Variants
1 paper
NM_000420.3
p.L705V
c.2113C>G
1 paper
NM_000420.3
p.L705I
c.2113C>A
1 paper
NM_000420.3
p.L705P
c.2114T>C
1 paper
NM_000420.3
p.P704L
c.2111C>T
1 paper
NM_000420.3
p.P704R
c.2111C>G
2 papers
NM_000420.3
p.P704H
c.2111C>A
1 paper
NM_000420.3
p.P704T
c.2110C>A
1 paper
NM_000420.3
p.S706I
c.2117G>T
1 paper
NM_000420.3
p.S706T
c.2117G>C
1 paper
NM_000420.3
p.S706N
c.2117G>A
1 paper
NM_000420.3
p.G703W
c.2107G>T
9 papers
NM_000420.3
p.G703R
c.2107G>C
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