Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A9

SLC12A9

189 papers

Pfam Domains

AA_permeaseaa 42–536UCSCAmino acid permease
SLC12aa 545–640UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 9

HGNC Alias Symbol

CIP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 124 variants
9 papers
NM_020246.4
p.C132*
c.396T>A
9 papers
NM_020246.4
p.A297S
c.889G>T
3 papers
NM_020246.4
p.I350T
c.1049T>C
2 papers
NM_020246.4
p.R12L
c.35G>T
2 papers
NM_020246.4
p.L83V
c.247C>G
2 papers
NM_020246.4
p.A544P
c.1630G>C
2 papers
NM_020246.4
p.L588L
c.1764G>A
2 papers
NM_020246.4
p.I616F
c.1846A>T
1 paper
NM_020246.4
p.M1insFs
c.2_3insT
1 paper
NM_020246.4
p.M1I
c.3G>A
1 paper
NM_020246.4
p.M1I
c.3G>C
1 paper
NM_020246.4
p.M1I
c.3G>T
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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."