Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.E332E

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.E332E
c.996G>A
Surrounding Variants
2 papers
NM_015865.7
p.E332_V333Splc
c.996+5G>C
1 paper
NM_015865.7
p.E332_V333Splc
c.996+9G>T
1 paper
NM_015865.7
p.F329V
c.985T>G
1 paper
NM_015865.7
p.A327S
c.979G>T
1 paper
NM_015865.7
p.E332_V333Splc
c.996+18T>C
2 papers
NM_015865.7
p.G325S
c.973G>A
1 paper
NM_015865.7
p.L322F
c.964C>T
1 paper
NM_001308278.2
p.Y216delFs
c.647_648delAT
1 paper
NM_015865.7
p.T319T
c.957G>A
11 papers
NM_015865.7
p.T319M
c.956C>T
1 paper
NM_015865.7
p.A316A
c.948C>G
1 paper
NM_015865.7
p.A316Splc
c.947-13T>C
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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."