Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.G219R

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
40 papers
NM_177550.5
p.G219R
c.655G>A
Surrounding Variants
39 papers
NM_177550.5
p.G219R
c.655G>C
1 paper
NM_177550.5
p.G219E
c.656G>A
1 paper
NM_177550.5
p.G220D
c.659G>A
3 papers
NM_177550.5
p.S217N
c.650G>A
1 paper
NM_177550.5
p.A222S
c.664G>T
3 papers
NM_177550.5
p.A215V
c.644C>T
1 paper
NM_177550.5
p.T223A
c.667A>G
24 papers
NM_177550.5
p.T227M
c.680C>T
1 paper
NM_177550.5
p.G228A
c.683G>C
1 paper
NM_177550.5
p.N230S
c.689A>G
1 paper
NM_177550.5
p.V231insFs
c.691dupG
1 paper
NM_177550.5
p.V231G
c.692T>G
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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."