Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A7
Variant:p.E497*

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
1 paper
NM_052832.4
p.E497*
c.1489G>T
Surrounding Variants
1 paper
NM_052832.4
p.S496_E497Splc
c.1489-2A>T
5 papers
NM_052832.4
p.Q500*
c.1498C>T
1 paper
NM_052832.4
p.K518insFs
c.1554dupA
1 paper
NM_052832.4
p.A516A
c.1548A>C
1 paper
NM_052832.4
p.K518_D522delFs
c.1552_1565del14
1 paper
NM_052832.4
p.K518insFs
c.1552_1553insC
1 paper
NM_052832.4
p.K518fs
c.1552_1553fs
1 paper
NM_052832.4
p.F519_L523delFs
c.1555_1568del14
1 paper
NM_052832.4
p.F519I
c.1555T>A
1 paper
NM_052832.4
p.Y520C
c.1559A>G
1 paper
NM_052832.4
p.L523*
c.1568T>A
1 paper
NM_052832.4
p.L523*
c.1568T>G
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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."