Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.T34A

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
1 paper
NM_198999.3
p.T34A
c.100A>G
Surrounding Variants
4 papers
NM_198999.3
p.T34S
c.100A>T
1 paper
NM_198999.3
p.T34_K35insG
c.100_104ins3
2 papers
NM_198999.3
p.T34T
c.102A>G
1 paper
NM_198999.3
p.E30G
c.89A>G
1 paper
NM_198999.3
p.V38D
c.113T>A
3 papers
NM_198999.3
p.V27I
c.79G>A
1 paper
NM_198999.3
p.H25Y
c.73C>T
2 papers
NM_198999.3
p.A43V
c.128C>T
1 paper
NM_198999.3
p.L46M
c.136C>A
5 papers
NM_198999.3
p.L46P
c.137T>C
1 paper
NM_198999.3
p.L46Q
c.137T>A
1 paper
NM_198999.3
p.Y17_P21delins
c.51_63delinsA
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