Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.L348P

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
5 papers
NM_022042.4
p.L348P
c.1043T>C
Surrounding Variants
1 paper
NM_022042.4
p.V346L
c.1036G>T
1 paper
NM_022042.4
p.A345S
c.1033G>T
1 paper
NM_022042.4
p.A354T
c.1060G>A
1 paper
NM_022042.4
p.V346_A354del9
c.1036_1061del27
1 paper
NM_022042.4
p.R340C
c.1018C>T
11 papers
NM_022042.4
p.S358L
c.1073C>T
1 paper
NM_022042.4
p.L359insFs
c.1076_1077dupTG
1 paper
NM_022042.4
p.A360V
c.1079C>T
1 paper
NM_022042.4
p.E361K
c.1081G>A
1 paper
NM_022042.4
p.P335L
c.1004C>T
1 paper
NM_022042.4
p.M362V
c.1084A>G
1 paper
NM_022042.4
p.P333T
c.997C>A
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