Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A8
Variant:p.L441P

SLC26A8

145 papers

RefSeq Summary

This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns...

Pfam Domains

Sulfate_transpaa 92–493UCSCSulfate permease family
STASaa 544–791UCSCSTAS domain
STASaa 544–791UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 8

HGNC Alias Symbol

TAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052961.4
p.L441P
c.1322T>C
Surrounding Variants
1 paper
NM_052961.4
p.G435delFs
c.1305delG
2 papers
NM_052961.4
p.N455_A456Splc
c.1365+93C>G
1 paper
NM_052961.4
p.C487Y
c.1460G>A
1 paper
NM_052961.4
p.Q429_F430Splc
c.1287+27A>G
1 paper
NM_052961.4
p.G425R
c.1273G>C
1 paper
NM_052961.4
p.G425R
c.1273G>A
2 papers
NM_052961.4
p.Q421K
c.1261C>A
1 paper
NM_052961.4
p.Q391_D392Splc
c.1174-47T>C
1 paper
NM_052961.4
p.C487_A488Splc
c.1462-1G>T
1 paper
NM_052961.4
p.D503E
c.1509C>G
1 paper
NM_052961.4
p.D503E
c.1509C>A
1 paper
NM_052961.4
p.F515C
c.1544T>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."