Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A1
Variant:p.S328*

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.S328*
c.983C>A
Surrounding Variants
1 paper
NM_001080397.3
p.V316I
c.946G>A
1 paper
NM_001080397.3
p.P314L
c.941C>T
1 paper
NM_001080397.3
p.P346L
c.1037C>T
1 paper
NM_001080397.3
p.Y348H
c.1042T>C
1 paper
NM_001080397.3
p.P296P
c.888G>A
1 paper
NM_001080397.3
p.A365T
c.1093G>A
1 paper
NM_001080397.3
p.A371T
c.1111G>A
1 paper
NM_001080397.3
p.I373T
c.1118T>C
1 paper
NM_001080397.3
p.D379N
c.1135G>A
1 paper
NM_001080397.3
p.V275I
c.823G>A
1 paper
NM_001080397.3
p.F272L
c.816C>A
1 paper
NM_001080397.3
p.F272L
c.816C>G
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