Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.C157Splc

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
2 papers
NM_015865.7
p.C157Splc
c.471-1G>C
Surrounding Variants
9 papers
NM_015865.7
p.C157Splc
c.471-1G>A
1 paper
NM_001128588.4
p.F216delFs
c.647_648delTC
2 papers
NM_015865.7
p.A163T
c.487G>A
11 papers
NM_015865.7
p.M167V
c.499A>G
1 paper
NM_015865.7
p.W171R
c.511T>A
4 papers
NM_015865.7
p.W171R
c.511T>C
5 papers
NM_015865.7
p.W171*
c.512G>A
3 papers
NM_015865.7
p.W171*
c.513G>A
1 paper
NM_015865.7
p.P174_P179del0
c.522_536del15
1 paper
NM_015865.7
p.D172D
c.516C>T
2 papers
NM_015865.7
p.V175I
c.523G>A
4 papers
NM_015865.7
p.P179R
c.536C>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."