Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.G487S

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.G487S
c.1459G>A
Surrounding Variants
1 paper
NM_198999.3
p.Y486F
c.1457A>T
2 papers
NM_198999.3
p.D485N
c.1453G>A
1 paper
NM_198999.3
p.S478F
c.1433C>T
1 paper
NM_198999.3
p.V499L
c.1495G>T
1 paper
NM_198999.3
p.V499L
c.1495G>C
16 papers
NM_198999.3
p.V499G
c.1496T>G
2 papers
NM_198999.3
p.V499A
c.1496T>C
2 papers
NM_198999.3
p.I500V
c.1498A>G
1 paper
NM_198999.3
p.I500L
c.1498A>C
18 papers
NM_198999.3
p.Y501H
c.1501T>C
1 paper
NM_198999.3
p.Y501F
c.1502A>T
1 paper
NM_198999.3
p.I467V
c.1399A>G
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