Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.S143R

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.S143R
c.429T>G
Surrounding Variants
1 paper
NM_016180.5
p.S143R
c.429T>A
2 papers
NM_016180.5
p.I142_S143insFs
c.426_429dup4
1 paper
NM_016180.5
p.S143R
c.427A>C
2 papers
NM_016180.5
p.V144fs
c.430_431fs
1 paper
NM_016180.5
p.T145insFs
c.433_434ins4
1 paper
NM_016180.5
p.I142L
c.424A>T
1 paper
NM_016180.5
p.I142V
c.424A>G
1 paper
NM_016180.5
p.I142L
c.424A>C
1 paper
NM_016180.5
p.M146L
c.436A>T
1 paper
NM_016180.5
p.M146L
c.436A>C
1 paper
NM_016180.5
p.M146T
c.437T>C
3 papers
NM_016180.5
p.M146K
c.437T>A
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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."