Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.R130S

SLC26A5

166 papers

RefSeq Summary

This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act ...

Pfam Domains

Sulfate_transpaa 80–475UCSCSulfate permease family
STASaa 526–709UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 5

HGNC Previous Symbol

PRES

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_198999.3
p.R130S
c.390A>C
Surrounding Variants
13 papers
NM_198999.3
p.R130S
c.390A>T
1 paper
NM_198999.3
p.R130T
c.389G>C
1 paper
NM_198999.3
p.R130K
c.389G>A
1 paper
NM_198999.3
p.I132V
c.394A>G
1 paper
NM_198999.3
p.I132K
c.395T>A
1 paper
NM_198999.3
p.S133P
c.397T>C
2 papers
NM_198999.3
p.S133T
c.397T>A
1 paper
NM_198999.3
p.S133S
c.399C>T
1 paper
NM_198999.3
p.L126L
c.378T>A
2 papers
NM_198999.3
p.C124S
c.371G>C
2 papers
NM_198999.3
p.C124S
c.370T>A
1 paper
NM_198999.3
p.M122L
c.364A>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."