Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.I487M

SLC26A4

1,372 papers

RefSeq Summary

Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar ...

Pfam Domains

Sulfate_transpaa 84–485UCSCSulfate permease family
STASaa 536–725UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 4

HGNC Previous Symbol

DFNB4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000441.2
p.I487M
c.1461A>G
Surrounding Variants
1 paper
NM_000441.2
p.V488M
c.1462G>A
1 paper
NM_000441.2
p.V488L
c.1462G>T
1 paper
NM_000441.2
p.I487insFs
c.1459_1460insT
1 paper
NM_000441.2
p.V488E
c.1463T>A
1 paper
NM_000441.2
p.C486Y
c.1457G>A
7 papers
NM_000441.2
p.C486_I487insFs
c.1458_1459insT
1 paper
NM_000441.2
p.C486_I487delFs
c.1458_1459delTA
1 paper
NM_000441.2
p.S489F
c.1466C>T
1 paper
NM_000441.2
p.I490insFs
c.1468_1469insAA
23 papers
NM_000441.2
p.I490L
c.1468A>C
11 papers
NM_000441.2
p.T485R
c.1454C>G
6 papers
NM_000441.2
p.T485M
c.1454C>T
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