Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.A183A

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.A183A
c.549G>A
Surrounding Variants
2 papers
NM_015865.7
p.A183V
c.548C>T
1 paper
NM_015865.7
p.L184*
c.551T>A
7 papers
NM_015865.7
p.Y187*
c.561C>A
5 papers
NM_015865.7
p.Y187*
c.561C>G
1 paper
NM_015865.7
p.Y187Y
c.561C>T
4 papers
NM_015865.7
p.P179R
c.536C>G
1 paper
NM_015865.7
p.L188F
c.562C>T
1 paper
NM_001308278.2
p.S84delFs
c.251_252delCA
1 paper
NM_015865.7
p.A190T
c.568G>A
2 papers
NM_015865.7
p.V175I
c.523G>A
8 papers
NM_015865.7
p.Y194*
c.582C>A
9 papers
NM_015865.7
p.Y194*
c.582C>G
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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."