Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.M153L

SLC14A1

139 papers

RefSeq Summary

The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009].

Pfam Domains

UTaa 59–354UCSCUrea transporter

Gene Aliases

HGNC Name

solute carrier family 14 member 1

HGNC Previous Symbol

JK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015865.7
p.M153L
c.457A>C
Surrounding Variants
1 paper
NM_015865.7
p.M153L
c.457A>T
1 paper
NM_015865.7
p.C151S
c.452G>C
1 paper
NM_015865.7
p.C151S
c.451T>A
2 papers
NM_015865.7
p.M155I
c.465G>C
1 paper
NM_015865.7
p.L148P
c.443T>C
1 paper
NM_015865.7
p.L148F
c.442C>T
4 papers
NM_015865.7
p.L146P
c.437T>C
1 paper
NM_015865.7
p.W144*
c.432G>A
2 papers
NM_015865.7
p.C157Splc
c.470+12T>C
1 paper
NM_015865.7
p.W144R
c.430T>A
1 paper
NM_015865.7
p.W144R
c.430T>C
1 paper
NM_015865.7
p.A134A
c.402T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."