Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.S67T

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.S67T
c.200G>C
Surrounding Variants
1 paper
NM_016180.5
p.L65fs
c.193_194fs
1 paper
NM_016180.5
p.L69P
c.206T>C
3 papers
NM_016180.5
p.G64delFs
c.192delA
3 papers
NM_016180.5
p.Y70H
c.208T>C
1 paper
NM_016180.5
p.G64V
c.191G>T
1 paper
NM_016180.5
p.G64D
c.191G>A
5 papers
NM_016180.5
p.G64S
c.190G>A
1 paper
NM_016180.5
p.Y70*
c.210C>A
1 paper
NM_016180.5
p.S71G
c.211A>G
1 paper
NM_016180.5
p.I72T
c.215T>C
1 paper
NM_016180.5
p.S62N
c.185G>A
1 paper
NM_016180.5
p.I72M
c.216T>G
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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."