Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A7
Variant:p.V478delFs

SLC26A7

87 papers

RefSeq Summary

This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. T...

Pfam Domains

Sulfate_transpaa 1–143UCSCSulfate permease family
Sulfate_transpaa 47–444UCSCSulfate permease family
STASaa 493–637UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 7

HGNC Alias Symbol

SUT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_052832.4
p.V478delFs
c.1432_1433delGT
Surrounding Variants
1 paper
NM_052832.4
p.K481_K491del11
c.1441_1472del33
1 paper
NM_052832.4
p.E485V
c.1454A>T
1 paper
NM_052832.4
p.S496_E497Splc
c.1488+1G>A
3 papers
NM_052832.4
p.V455M
c.1363G>A
1 paper
NM_052832.4
p.C450Y
c.1349G>A
1 paper
NM_052832.4
p.V446L
c.1336G>C
1 paper
NM_052832.4
p.V446L
c.1336G>T
1 paper
NM_052832.4
p.W438_G439Splc
c.1315-2A>G
1 paper
NM_052832.4
p.S496_E497Splc
c.1489-2A>T
1 paper
NM_052832.4
p.E497*
c.1489G>T
5 papers
NM_052832.4
p.Q500*
c.1498C>T
1 paper
NM_052832.4
p.K518insFs
c.1554dupA
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