Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A5
Variant:p.P505R

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.P505R
c.1514C>G
Surrounding Variants
7 papers
NM_177550.5
p.P505L
c.1514C>T
4 papers
NM_177550.5
p.L504delFs
c.1511delA
2 papers
NM_177550.5
p.L504fs
c.1510_1511fs
1 paper
NM_177550.5
p.A507T
c.1519G>A
1 paper
NM_177550.5
p.A507delFs
c.1521delG
1 paper
NM_177550.5
p.A501P
c.1501G>C
2 papers
NM_177550.5
p.F500L
c.1500T>G
2 papers
NM_177550.5
p.F500L
c.1500T>A
2 papers
NM_177550.5
p.F500Y
c.1499T>A
2 papers
NM_177550.5
p.F500V
c.1498T>G
2 papers
NM_177550.5
p.F500L
c.1498T>C
2 papers
NM_177550.5
p.F500I
c.1498T>A
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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."