Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A1
Variant:p.N65H

SLC45A1

66 papers

RefSeq Summary

This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belo...

Pfam Domains

MFS_1aa 91–371UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 45 member 1

HGNC Previous Symbol

DNB5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001080397.3
p.N65H
c.193A>C
Surrounding Variants
1 paper
NM_001080397.3
p.N65fs
c.193_194fs
1 paper
NM_001080397.3
p.N65delFs
c.193_194delAA
1 paper
NM_001080397.3
p.T66I
c.197C>T
1 paper
NM_001080397.3
p.P62P
c.186G>A
1 paper
NM_001080397.3
p.S59P
c.175T>C
1 paper
NM_001080397.3
p.S59insFs
c.175_176insG
1 paper
NM_001080397.3
p.S59_N65del7
c.175_194del21
2 papers
NM_001080397.3
p.R57C
c.169C>T
3 papers
NM_001080397.3
p.I56T
c.167T>C
1 paper
NM_001080397.3
p.G76V
c.227G>T
1 paper
NM_001080397.3
p.N44ins3
c.130_131ins9
1 paper
NM_001080397.3
p.V35M
c.103G>A
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