Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.P90R

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.P90R
c.269C>G
Surrounding Variants
1 paper
NM_015865.7
p.P90S
c.268C>T
1 paper
NM_015865.7
p.N89K
c.267C>G
1 paper
NM_015865.7
p.N89delFs
c.267delC
1 paper
NM_015865.7
p.W92*
c.275G>A
1 paper
NM_015865.7
p.W92*
c.276G>A
1 paper
NM_015865.7
p.V87I
c.259G>A
1 paper
NM_015865.7
p.V87delFs
c.261delT
1 paper
NM_015865.7
p.A93A
c.279T>C
1 paper
NM_015865.7
p.T95I
c.284C>T
1 paper
NM_015865.7
p.G96_W97del2
c.286_290del6
1 paper
NM_015865.7
p.G96S
c.286G>A
1 paper
NM_015865.7
p.G96V
c.287G>T
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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."