Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.R17del1

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.R17del1
c.49_50delAGG
Surrounding Variants
1 paper
NM_015865.7
p.E19K
c.55G>A
1 paper
NM_015865.7
p.E19insFs
c.56_57insA
1 paper
NM_015865.7
p.N20fs
c.58_59fs
2 papers
NM_015865.7
p.Q21R
c.62A>G
1 paper
NM_015865.7
p.D11N
c.31G>A
7 papers
NM_015865.7
p.S23P
c.67T>C
2 papers
NM_015865.7
p.S23L
c.68C>T
5 papers
NM_015865.7
p.V10M
c.28G>A
3 papers
NM_015865.7
p.S23S
c.69G>A
1 paper
NM_015865.7
p.R9K
c.26G>A
2 papers
NM_015865.7
p.C25S
c.73T>A
2 papers
NM_015865.7
p.C25S
c.74G>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."