Varaico: Literature-Extracted Genetic Variants

Gene:SLC49A4

SLC49A4

44 papers

RefSeq Summary

This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell ...

Pfam Domains

MFS_1aa 58–436UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 49 member 4

HGNC Previous Symbol

DIRC2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
3 papers
NM_032839.3
p.R281*
c.841C>T
2 papers
NM_032839.3
p.A40A
c.120G>A
1 paper
NM_032839.3
p.M1_G2del2
c.1_5del6
1 paper
NM_032839.3
p.E8_E9ins10
c.22_26ins30
1 paper
NM_032839.3
p.E9D
c.27G>C
1 paper
NM_032839.3
p.E9D
c.27G>T
1 paper
NM_032839.3
p.E10Q
c.28G>C
1 paper
NM_032839.3
p.P13T
c.37C>A
1 paper
NM_032839.3
p.L14P
c.41T>C
1 paper
NM_032839.3
p.L19F
c.55C>T
1 paper
NM_032839.3
p.L19P
c.56T>C
1 paper
NM_032839.3
p.P21P
c.63T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."