Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.P136T

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
4 papers
NM_198999.3
p.P136T
c.406C>A
Surrounding Variants
1 paper
NM_198999.3
p.M143L
c.427A>T
1 paper
NM_198999.3
p.M143L
c.427A>C
1 paper
NM_198999.3
p.G145C
c.433G>T
2 papers
NM_198999.3
p.V147A
c.440T>C
1 paper
NM_198999.3
p.V149V
c.447T>A
1 paper
NM_198999.3
p.R150G
c.448C>G
10 papers
NM_198999.3
p.R150Q
c.449G>A
1 paper
NM_198999.3
p.G135Splc
c.404-45A>G
2 papers
NM_198999.3
p.D154N
c.460G>A
1 paper
NM_198999.3
p.G160A
c.479G>C
1 paper
NM_198999.3
p.V162L
c.484G>T
1 paper
NM_198999.3
p.V162L
c.484G>C
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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."