Varaico: Literature-Extracted Genetic Variants

Gene:SLC18B1
Variant:p.L258Q

SLC18B1

34 papers

RefSeq Summary

This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008].

Pfam Domains

MFS_1aa 40–366UCSCMajor Facilitator Superfamily
MFS_1aa 240–453UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 18 member B1

HGNC Previous Symbol

C6orf192

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052831.3
p.L258Q
c.773T>A
Surrounding Variants
1 paper
NM_052831.3
p.L260F
c.778C>T
2 papers
NM_052831.3
p.G274V
c.821G>T
1 paper
NM_052831.3
p.D296Y
c.886G>T
2 papers
NM_052831.3
p.I215V
c.643A>G
1 paper
NM_052831.3
p.P210A
c.628C>G
1 paper
NM_052831.3
p.V205I
c.613G>A
1 paper
NM_052831.3
p.V204I
c.610G>A
1 paper
NM_052831.3
p.R302G
c.904A>G
1 paper
NM_052831.3
p.L306L
c.916C>T
1 paper
NM_052831.3
p.I328V
c.982A>G
1 paper
NM_052831.3
p.S349I
c.1046G>T
1 paper
NM_052831.3
p.T372I
c.1115C>T
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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."