Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.D113E

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.D113E
c.339C>G
Surrounding Variants
1 paper
NM_015865.7
p.D113E
c.339C>A
1 paper
NM_015865.7
p.Q112*
c.334C>T
1 paper
NM_015865.7
p.S111delFs
c.332_333delGC
1 paper
NM_015865.7
p.R114Splc
c.341+10C>T
1 paper
NM_015865.7
p.L109delFs
c.327delG
1 paper
NM_015865.7
p.L109fs
c.325_326fs
1 paper
NM_015865.7
p.S103P
c.307T>C
2 papers
NM_015865.7
p.V101V
c.303G>A
1 paper
NM_015865.7
p.V101A
c.302T>C
1 paper
NM_015865.7
p.L98P
c.293T>C
1 paper
NM_015865.7
p.W97C
c.291G>T
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."