Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.L488P

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
15 papers
NM_177550.5
p.L488P
c.1463T>C
Surrounding Variants
6 papers
NM_177550.5
p.P487L
c.1460C>T
1 paper
NM_177550.5
p.N486H
c.1456A>C
1 paper
NM_177550.5
p.I490delFs
c.1470delG
16 papers
NM_177550.5
p.L492P
c.1475T>C
1 paper
NM_177550.5
p.R481H
c.1442G>A
1 paper
NM_177550.5
p.S497R
c.1489A>C
1 paper
NM_177550.5
p.S497I
c.1490G>T
1 paper
NM_177550.5
p.S497R
c.1491T>G
1 paper
NM_177550.5
p.S497R
c.1491T>A
2 papers
NM_177550.5
p.S499F
c.1496C>T
2 papers
NM_177550.5
p.F500V
c.1498T>G
2 papers
NM_177550.5
p.F500L
c.1498T>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."