Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.R98W

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.R98W
c.292A>T
Surrounding Variants
1 paper
NM_016180.5
p.S97C
c.290C>G
1 paper
NM_016180.5
p.S97T
c.289T>A
1 paper
NM_016180.5
p.R96P
c.287G>C
6 papers
NM_016180.5
p.G100S
c.298G>A
2 papers
NM_016180.5
p.R96insFs
c.286_287insA
1 paper
NM_016180.5
p.G100V
c.299G>T
1 paper
NM_016180.5
p.C95W
c.285C>G
2 papers
NM_016180.5
p.C95R
c.283T>C
3 papers
NM_016180.5
p.R101C
c.301C>T
1 paper
NM_016180.5
p.R101G
c.301C>G
1 paper
NM_016180.5
p.R101H
c.302G>A
3 papers
NM_016180.5
p.R102W
c.304C>T
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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."