Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A4
Variant:p.N718D

SLC45A4

39 papers

Pfam Domains

MFS_1aa 51–307UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 45 member 4

HGNC Alias Symbol

KIAA1126

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001286646.2
p.N718D
c.2152A>G
Surrounding Variants
1 paper
NM_001286646.2
p.E722K
c.2164G>A
1 paper
NM_001286646.2
p.S700Y
c.2099C>A
1 paper
NM_001286646.2
p.G736S
c.2206G>A
1 paper
NM_001286646.2
p.G683V
c.2048G>T
1 paper
NM_001286646.2
p.S674fs
c.2020_2021fs
1 paper
NM_001286646.2
p.Y672F
c.2015A>T
1 paper
NM_001286646.2
p.Q670*
c.2008C>T
1 paper
NM_001286646.2
p.V767V
c.2301G>T
1 paper
NM_001286646.2
p.V774A
c.2321T>C
1 paper
NM_001286646.2
p.I800delFs
c.2398delT
1 paper
NM_001286646.2
p.I800fs
c.2398_2399fs
1 paper
NM_001286646.2
p.W806*
c.2417G>A
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