Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A8
Variant:p.H474Q

SLC5A8

68 papers

RefSeq Summary

SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al....

Pfam Domains

SSFaa 45–449UCSCSodium:solute symporter family

Gene Aliases

HGNC Name

solute carrier family 5 member 8

HGNC Alias Symbol

AIT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145913.5
p.H474Q
c.1422C>G
Surrounding Variants
1 paper
NM_145913.5
p.H474Q
c.1422C>A
1 paper
NM_145913.5
p.L475P
c.1424T>C
1 paper
NM_145913.5
p.L466L
c.1398T>C
1 paper
NM_145913.5
p.L466I
c.1396C>A
1 paper
NM_145913.5
p.Y484N
c.1450T>A
1 paper
NM_145913.5
p.L489delFs
c.1467delC
3 papers
NM_145913.5
p.M490I
c.1470G>T
3 papers
NM_145913.5
p.M490I
c.1470G>C
3 papers
NM_145913.5
p.M490I
c.1470G>A
1 paper
NM_145913.5
p.G457V
c.1370G>T
1 paper
NM_145913.5
p.L433fs
c.1297_1298fs
1 paper
NM_145913.5
p.G431D
c.1292G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."