Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.F43S

SLC45A2

429 papers

RefSeq Summary

This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albi...

Pfam Domains

MFS_1aa 35–362UCSCMajor Facilitator Superfamily
MFS_2aa 37–172UCSCMFS/sugar transport protein

Gene Aliases

HGNC Name

solute carrier family 45 member 2

HGNC Previous Symbol

MATP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016180.5
p.F43S
c.128T>C
Surrounding Variants
1 paper
NM_016180.5
p.F43F
c.129C>T
6 papers
NM_016180.5
p.M42I
c.126G>T
7 papers
NM_016180.5
p.G44R
c.130G>C
6 papers
NM_016180.5
p.M42I
c.126G>C
7 papers
NM_016180.5
p.G44R
c.130G>A
6 papers
NM_016180.5
p.M42I
c.126G>A
4 papers
NM_016180.5
p.M42T
c.125T>C
2 papers
NM_016180.5
p.G44E
c.131G>A
2 papers
NM_016180.5
p.G44insFs
c.131dupG
1 paper
NM_016180.5
p.R45G
c.133A>G
1 paper
NM_016180.5
p.R45R
c.133A>C
1 paper
NM_016180.5
p.R45insFs
c.133_134insC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."