Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.L45P

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.L45P
c.134T>C
Surrounding Variants
25 papers
NM_015865.7
p.E44K
c.130G>A
1 paper
NM_015865.7
p.G40D
c.119G>A
1 paper
NM_015865.7
p.G40A
c.119G>C
2 papers
NM_015865.7
p.G40S
c.118G>A
1 paper
NM_015865.7
p.D51Splc
c.151+1G>A
1 paper
NM_015865.7
p.Y37*
c.111T>A
1 paper
NM_015865.7
p.Y37*
c.111T>G
1 paper
NM_015865.7
p.L35L
c.105T>C
1 paper
NM_015865.7
p.L35V
c.103C>G
1 paper
NM_015865.7
p.P32_K33delFs
c.96_97delCA
2 papers
NM_015865.7
p.C30S
c.89G>C
2 papers
NM_015865.7
p.C30S
c.88T>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."