Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5

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
1–12 of 303 variants
18 papers
NM_198999.3
p.Y501H
c.1501T>C
16 papers
NM_198999.3
p.V499G
c.1496T>G
13 papers
NM_198999.3
p.R130S
c.390A>T
13 papers
NM_198999.3
p.R130S
c.390A>C
10 papers
NM_198999.3
p.R150Q
c.449G>A
8 papers
NM_198999.3
p.W70*
c.209G>A
8 papers
NM_198999.3
p.W70*
c.210G>A
5 papers
NM_198999.3
p.L46P
c.137T>C
5 papers
NM_198999.3
p.P119S
c.355C>T
4 papers
NM_198999.3
p.T34S
c.100A>T
4 papers
NM_198999.3
p.A100T
c.298G>A
4 papers
NM_198999.3
p.P136T
c.406C>A
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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."