Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.P444L

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
1 paper
NM_177550.5
p.P444L
c.1331C>T
Surrounding Variants
1 paper
NM_177550.5
p.P444S
c.1330C>T
1 paper
NM_177550.5
p.I448T
c.1343T>C
2 papers
NM_177550.5
p.V456I
c.1366G>A
1 paper
NM_177550.5
p.V431M
c.1291G>A
2 papers
NM_177550.5
p.V458M
c.1372G>A
1 paper
NM_177550.5
p.G428E
c.1283G>A
16 papers
NM_177550.5
p.S427L
c.1280C>T
1 paper
NM_177550.5
p.A426T
c.1276G>A
3 papers
NM_177550.5
p.E425_A426Splc
c.1276-1G>A
1 paper
NM_177550.5
p.T463A
c.1387A>G
1 paper
NM_177550.5
p.N465H
c.1393A>C
1 paper
NM_177550.5
p.S464delFs
c.1392delG
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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."