Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A11
Variant:p.R247C

SLC26A11

59 papers

RefSeq Summary

This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intrac...

Pfam Domains

Sulfate_transpaa 48–441UCSCSulfate permease family
STASaa 470–576UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 11

HGNC Previous Names

solute carrier family 26, member 11; solute carrier family 26 (anion exchanger), member 11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001166347.2
p.R247C
c.739C>T
Surrounding Variants
1 paper
NM_001166347.2
p.N248K
c.744C>A
1 paper
NM_001166347.2
p.N248K
c.744C>G
1 paper
NM_001166347.2
p.F254F
c.762C>T
1 paper
NM_001166347.2
p.G274R
c.820G>A
1 paper
NM_001166347.2
p.G274R
c.820G>C
1 paper
NM_001166347.2
p.V312M
c.934G>A
1 paper
NM_001166347.2
p.L315V
c.943C>G
1 paper
NM_001166347.2
p.A325S
c.973G>T
1 paper
NM_001166347.2
p.K326R
c.977A>G
1 paper
NM_001166347.2
p.A329Splc
c.986-4T>G
1 paper
NM_001166347.2
p.L342L
c.1026G>A
1 paper
NM_001166347.2
p.G346S
c.1036G>A
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