Varaico: Literature-Extracted Genetic Variants

Gene:SLC49A4
Variant:p.L14P

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
1 paper
NM_032839.3
p.L14P
c.41T>C
Surrounding Variants
1 paper
NM_032839.3
p.P13T
c.37C>A
1 paper
NM_032839.3
p.E10Q
c.28G>C
1 paper
NM_032839.3
p.L19F
c.55C>T
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.L19P
c.56T>C
1 paper
NM_032839.3
p.E8_E9ins10
c.22_26ins30
1 paper
NM_032839.3
p.P21P
c.63T>G
1 paper
NM_032839.3
p.G24_A25ins15
c.70_74ins45
1 paper
NM_032839.3
p.M1_G2del2
c.1_5del6
1 paper
NM_032839.3
p.R28K
c.83G>A
1 paper
NM_032839.3
p.S29R
c.85A>C
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