Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.P104S

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
2 papers
NM_016180.5
p.P104S
c.310C>T
Surrounding Variants
1 paper
NM_016180.5
p.R102P
c.305G>C
2 papers
NM_016180.5
p.R102Q
c.305G>A
3 papers
NM_016180.5
p.R102W
c.304C>T
1 paper
NM_016180.5
p.R101H
c.302G>A
3 papers
NM_016180.5
p.R101C
c.301C>T
1 paper
NM_016180.5
p.L107F
c.319C>T
1 paper
NM_016180.5
p.R101G
c.301C>G
1 paper
NM_016180.5
p.G100V
c.299G>T
6 papers
NM_016180.5
p.G100S
c.298G>A
1 paper
NM_016180.5
p.L109R
c.326T>G
8 papers
NM_016180.5
p.G110R
c.328G>C
8 papers
NM_016180.5
p.G110R
c.328G>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."