Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5

SLC13A5

147 papers

RefSeq Summary

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations...

Pfam Domains

Na_sulph_sympaa 8–554UCSCSodium:sulfate symporter transmembrane region

Gene Aliases

HGNC Name

solute carrier family 13 member 5

HGNC Alias Symbols

NACT; INDY

Papers
RefSeq ID
Protein change
DNA change
1–12 of 197 variants
40 papers
NM_177550.5
p.G219R
c.655G>A
39 papers
NM_177550.5
p.G219R
c.655G>C
24 papers
NM_177550.5
p.T227M
c.680C>T
18 papers
NM_177550.5
p.T142M
c.425C>T
16 papers
NM_177550.5
p.R333*
c.997C>T
16 papers
NM_177550.5
p.S427L
c.1280C>T
16 papers
NM_177550.5
p.L492P
c.1475T>C
15 papers
NM_177550.5
p.L488P
c.1463T>C
12 papers
NM_177550.5
p.Y82C
c.245A>G
10 papers
NM_177550.5
p.W341*
c.1022G>A
9 papers
NM_177550.5
p.W341*
c.1023G>A
9 papers
NM_177550.5
p.D524H
c.1570G>C
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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."