Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.D280N

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
49 papers
NM_015865.7
p.D280N
c.838G>A
Surrounding Variants
1 paper
NM_015865.7
p.D280H
c.838G>C
1 paper
NM_015865.7
p.D280Y
c.838G>T
1 paper
NM_015865.7
p.D280D
c.840C>T
1 paper
NM_001128588.4
p.A332_P333del2
c.994_998del6
1 paper
NM_015865.7
p.L272fs
c.814_815fs
1 paper
NM_015865.7
p.L272delFs
c.815_816delTC
1 paper
NM_015865.7
p.F288C
c.863T>G
1 paper
NM_015865.7
p.G271V
c.812G>T
2 papers
NM_015865.7
p.N289S
c.866A>G
17 papers
NM_015865.7
p.S291P
c.871T>C
1 paper
NM_015865.7
p.G271Splc
c.812-7T>C
1 paper
NM_015865.7
p.M297I
c.891G>A
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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."