Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A14
Variant:p.A252T

SLC22A14

50 papers

RefSeq Summary

This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a tran...

Pfam Domains

Sugar_traa 170–572UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 22 member 14

HGNC Previous Symbol

ORCTL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001320033.2
p.A252T
c.754G>A
Surrounding Variants
2 papers
NM_001320033.2
p.L238fs
c.712_713fs
1 paper
NM_001320033.2
p.L238_F239del2
c.712_716del6
1 paper
NM_001320033.2
p.I223M
c.669C>G
1 paper
NM_001320033.2
p.S217*
c.650C>A
1 paper
NM_001320033.2
p.S217*
c.650C>G
1 paper
NM_001320033.2
p.S198A
c.592T>G
2 papers
NM_001320033.2
p.A192T
c.574G>A
1 paper
NM_001320033.2
p.M189L
c.565A>C
1 paper
NM_001320033.2
p.M189L
c.565A>T
3 papers
NM_001320033.2
p.T181M
c.542C>T
6 papers
NM_001320033.2
p.E172_F173Splc
c.517-2A>C
1 paper
NM_001320033.2
p.R167*
c.499C>T
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