Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A9

SLC17A9

41 papers

RefSeq Summary

This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion...

Pfam Domains

MFS_1aa 30–387UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 17 member 9

HGNC Previous Symbol

C20orf59

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
8 papers
NM_022082.4
p.R9C
c.25C>T
4 papers
NM_022082.4
p.R311Q
c.932G>A
2 papers
NM_022082.4
p.S96*
c.287C>A
2 papers
NM_022082.4
p.S96*
c.287C>G
2 papers
NM_022082.4
p.S366F
c.1097C>T
2 papers
NM_022082.4
p.T397M
c.1190C>T
1 paper
NM_001302643.2
p.A19V
c.56C>T
1 paper
NM_022082.4
p.D85N
c.253G>A
1 paper
NM_022082.4
p.L94L
c.282G>C
1 paper
NM_022082.4
p.S98T
c.292T>A
1 paper
NM_022082.4
p.A153G
c.458C>G
1 paper
NM_022082.4
p.I158delFs
c.473delT
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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."