Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.E6delFs

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.E6delFs
c.16delC
Surrounding Variants
1 paper
NM_198999.3
p.E6fs
c.16_17fs
2 papers
NM_198999.3
p.N7T
c.20A>C
1 paper
NM_198999.3
p.A4V
c.11C>T
1 paper
NM_198999.3
p.D2E
c.6T>A
1 paper
NM_198999.3
p.L10F
c.28C>T
1 paper
NM_198999.3
p.D2Y
c.4G>T
1 paper
NM_198999.3
p.D2N
c.4G>A
1 paper
NM_198999.3
p.M1V
c.1A>G
2 papers
NM_198999.3
p.A12insFs
c.35_36insG
2 papers
NM_198999.3
p.Y16H
c.46T>C
1 paper
NM_198999.3
p.Y17_P21delins
c.51_63delinsA
1 paper
NM_198999.3
p.H25Y
c.73C>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."