Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.D216G

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.D216G
c.647A>G
Surrounding Variants
1 paper
NM_001128588.4
p.D272fs
c.814_815fs
NM_001308278.2
p.D111fs
c.331_332fs
NM_015865.7
p.D216fs
c.646_647fs
NM_001308279.2
p.D84fs
c.250_251fs
3 papers
NM_015865.7
p.D216delFs
c.647_648delAC
NM_001308279.2
p.D84delFs
c.251_252delAC
NM_001128588.4
p.D272delFs
c.815_816delAC
NM_001308278.2
p.D111delFs
c.332_333delAC
1 paper
NM_015865.7
p.D216fs
c.646_647fs
1 paper
NM_015865.7
p.N211S
c.632A>G
2 papers
NM_015865.7
p.N211I
c.632A>T
1 paper
NM_015865.7
p.E221D
c.663G>T
3 papers
NM_015865.7
p.E221_L222Splc
c.663+1G>T
1 paper
NM_015865.7
p.E221_L222Splc
c.663+3A>C
1 paper
NM_015865.7
p.P205S
c.613C>T
1 paper
NM_015865.7
p.A200G
c.599C>G
1 paper
NM_015865.7
p.F197F
c.591C>T
14 papers
NM_015865.7
p.P196P
c.588A>G
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