Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A1
Variant:p.Y628C

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
1 paper
NM_001080397.3
p.Y628C
c.1883A>G
Surrounding Variants
1 paper
NM_001080397.3
p.L606L
c.1818C>A
1 paper
NM_001080397.3
p.V573M
c.1717G>A
1 paper
NM_001080397.3
p.P560L
c.1679C>T
1 paper
NM_001080397.3
p.G549A
c.1646G>C
1 paper
NM_001080397.3
p.P520L
c.1559C>T
2 papers
NM_001080397.3
p.A503S
c.1507G>T
1 paper
NM_001080397.3
p.S494S
c.1482C>T
1 paper
NM_001080397.3
p.V490insFs
c.1469_1470dupTG
1 paper
NM_001080397.3
p.A666V
c.1997C>T
1 paper
NM_001080397.3
p.Q688Q
c.2064G>A
1 paper
NM_001080397.3
p.V694L
c.2080G>C
1 paper
NM_001080397.3
p.S700L
c.2099C>T
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