Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.Y82C

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
12 papers
NM_177550.5
p.Y82C
c.245A>G
Surrounding Variants
3 papers
NM_177550.5
p.Q77_V78Splc
c.232-2A>G
1 paper
NM_177550.5
p.L91P
c.272T>C
1 paper
NM_177550.5
p.G92G
c.276C>T
1 paper
NM_177550.5
p.V96M
c.286G>A
1 paper
NM_177550.5
p.A97_A99ins1
c.291_296dup6
1 paper
NM_177550.5
p.V100G
c.299T>G
1 paper
NM_177550.5
p.R102C
c.304C>T
1 paper
NM_177550.5
p.R102P
c.305G>C
1 paper
NM_177550.5
p.R102H
c.305G>A
1 paper
NM_177550.5
p.W103C
c.309G>T
1 paper
NM_177550.5
p.W103C
c.309G>C
4 papers
NM_177550.5
p.H106R
c.317A>G
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