Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.L23L

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.L128L
c.382C>T
Surrounding Variants
1 paper
NM_015865.7
p.L128Q
c.383T>A
1 paper
NM_015865.7
p.L128P
c.383T>C
1 paper
NM_015865.7
p.T127I
c.380C>T
1 paper
NM_015865.7
p.A126T
c.376G>A
3 papers
NM_015865.7
p.G130A
c.389G>C
1 paper
NM_015865.7
p.V131I
c.391G>A
1 paper
NM_015865.7
p.Y122H
c.364T>C
1 paper
NM_015865.7
p.A134A
c.402T>C
1 paper
NM_015865.7
p.G120E
c.359G>A
14 papers
NM_015865.7
p.R114Splc
c.342-1G>A
3 papers
NM_015865.7
p.R114Splc
c.342-1G>C
1 paper
NM_015865.7
p.W144R
c.430T>A
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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."