Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.G288R

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
Selected Variant
2 papers
NM_177550.5
p.G288R
c.862G>A
Surrounding Variants
1 paper
NM_177550.5
p.G288R
c.862G>C
1 paper
NM_177550.5
p.C287*
c.861C>A
1 paper
NM_177550.5
p.E295V
c.884A>T
1 paper
NM_177550.5
p.E295delFs
c.884delT
1 paper
NM_177550.5
p.E304K
c.910G>A
1 paper
NM_177550.5
p.P311S
c.931C>T
4 papers
NM_177550.5
p.A315T
c.943G>A
1 paper
NM_177550.5
p.F331C
c.992T>G
16 papers
NM_177550.5
p.R333*
c.997C>T
10 papers
NM_177550.5
p.W341*
c.1022G>A
9 papers
NM_177550.5
p.W341*
c.1023G>A
1 paper
NM_177550.5
p.L342P
c.1025T>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."