Varaico: Literature-Extracted Genetic Variants

Gene:SLC49A4
Variant:p.A40A

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
Selected Variant
2 papers
NM_032839.3
p.A40A
c.120G>A
Surrounding Variants
1 paper
NM_032839.3
p.V41G
c.122T>G
1 paper
NM_032839.3
p.P42A
c.124C>G
1 paper
NM_032839.3
p.A36delFs
c.108delG
1 paper
NM_032839.3
p.Y48C
c.143A>G
1 paper
NM_032839.3
p.A33_A34ins15
c.97_101ins45
1 paper
NM_032839.3
p.E31_A32ins9
c.91_95ins27
1 paper
NM_032839.3
p.S29R
c.87C>A
1 paper
NM_032839.3
p.S29R
c.87C>G
1 paper
NM_032839.3
p.S29R
c.85A>C
1 paper
NM_032839.3
p.R28K
c.83G>A
1 paper
NM_032839.3
p.L57_F58ins15
c.169_173ins45
1 paper
NM_032839.3
p.G24_A25ins15
c.70_74ins45
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