Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.N73S

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.N73S
c.218A>G
Surrounding Variants
1 paper
NM_015865.7
p.N73N
c.219C>T
1 paper
NM_015865.7
p.N74D
c.220A>G
10 papers
NM_015865.7
p.N74K
c.222C>A
8 papers
NM_015865.7
p.N74K
c.222C>G
1 paper
NM_015865.7
p.V72I
c.214G>A
5 papers
NM_015865.7
p.V76I
c.226G>A
2 papers
NM_015865.7
p.V70V
c.210G>A
1 paper
NM_015865.7
p.V76A
c.227T>C
2 papers
NM_015865.7
p.V70M
c.208G>A
1 paper
NM_015865.7
p.S77N
c.230G>A
5 papers
NM_015865.7
p.Q68*
c.202C>T
3 papers
NM_015865.7
p.G65D
c.194G>A
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