Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.T193R

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
2 papers
NM_000420.3
p.T193R
c.578C>G
Surrounding Variants
36 papers
NM_000420.3
p.T193M
c.578C>T
1 paper
NM_000420.3
p.T193K
c.578C>A
1 paper
NM_000420.3
p.T193delFs
c.577delT
1 paper
NM_000420.3
p.T193fs
c.577_578fs
5 papers
NM_000420.3
p.T193S
c.577A>T
1 paper
NM_000420.3
p.R192L
c.575G>T
2 papers
NM_000420.3
p.R192P
c.575G>C
2 papers
NM_000420.3
p.R192Q
c.575G>A
6 papers
NM_000420.3
p.R192*
c.574C>T
2 papers
NM_000420.3
p.L196V
c.586C>G
1 paper
NM_000420.3
p.F190C
c.569T>G
1 paper
NM_000420.3
p.L197M
c.589C>A
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