Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.I467V

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.I467V
c.1399A>G
Surrounding Variants
1 paper
NM_198999.3
p.S465C
c.1393A>T
1 paper
NM_198999.3
p.D457N
c.1369G>A
1 paper
NM_198999.3
p.Q454fs
c.1360_1361fs
1 paper
NM_198999.3
p.K449Q
c.1345A>C
1 paper
NM_198999.3
p.L448L
c.1342C>T
1 paper
NM_198999.3
p.N447D
c.1339A>G
2 papers
NM_198999.3
p.I445S
c.1334T>G
1 paper
NM_198999.3
p.I445T
c.1334T>C
4 papers
NM_198999.3
p.S441L
c.1322C>T
2 papers
NM_198999.3
p.S441A
c.1321T>G
1 paper
NM_198999.3
p.S478F
c.1433C>T
2 papers
NM_198999.3
p.D485N
c.1453G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."