Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.Q68*

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
5 papers
NM_015865.7
p.Q68*
c.202C>T
Surrounding Variants
2 papers
NM_015865.7
p.V70M
c.208G>A
3 papers
NM_015865.7
p.G65D
c.194G>A
2 papers
NM_015865.7
p.V70V
c.210G>A
2 papers
NM_015865.7
p.G65S
c.193G>A
9 papers
NM_015865.7
p.R64Q
c.191G>A
1 paper
NM_015865.7
p.R64L
c.191G>T
3 papers
NM_015865.7
p.R64W
c.190C>T
1 paper
NM_015865.7
p.V72I
c.214G>A
2 papers
NM_015865.7
p.L63F
c.187C>T
1 paper
NM_015865.7
p.N73S
c.218A>G
1 paper
NM_015865.7
p.N73N
c.219C>T
1 paper
NM_015865.7
p.I62insFs
c.185_186insT
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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."