Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.V121D

SLC26A1

112 papers

RefSeq Summary

This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, bu...

Pfam Domains

Sulfate_transpaa 69–477UCSCSulfate permease family
STASaa 531–683UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 1

HGNC Alias Symbols

SAT-1; EDM4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022042.4
p.V121D
c.362T>A
Surrounding Variants
1 paper
NM_022042.4
p.V123M
c.367G>A
1 paper
NM_022042.4
p.R119L
c.356G>T
1 paper
NM_022042.4
p.R119W
c.355C>T
1 paper
NM_022042.4
p.G116_S118del0
c.346_354del9
1 paper
NM_022042.4
p.S118S
c.354A>T
1 paper
NM_022042.4
p.T117S
c.350C>G
1 paper
NM_022042.4
p.T117N
c.350C>A
1 paper
NM_022042.4
p.M115delFs
c.344delA
1 paper
NM_022042.4
p.L114L
c.342C>G
1 paper
NM_022042.4
p.Y112C
c.335A>G
3 papers
NM_022042.4
p.M132T
c.395T>C
1 paper
NM_022042.4
p.N109D
c.325A>G
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