Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.G98Splc

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.G98Splc
c.292+2T>C
Surrounding Variants
1 paper
NM_198999.3
p.G98Splc
c.292+4A>G
1 paper
NM_198999.3
p.Q97E
c.289C>G
1 paper
NM_198999.3
p.L95L
c.285T>A
1 paper
NM_198999.3
p.L93L
c.279T>A
2 papers
NM_198999.3
p.T90I
c.269C>T
1 paper
NM_198999.3
p.S86*
c.257C>G
1 paper
NM_198999.3
p.F76_L84del9
c.226_251del27
1 paper
NM_198999.3
p.E78K
c.232G>A
1 paper
NM_198999.3
p.Y74*
c.222C>G
1 paper
NM_198999.3
p.Y74*
c.222C>A
1 paper
NM_198999.3
p.L71delFs
c.211delG
8 papers
NM_198999.3
p.W70*
c.210G>A
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