Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.N133K

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.N133K
c.399C>G
Surrounding Variants
1 paper
NM_016180.5
p.N133K
c.399C>A
1 paper
NM_016180.5
p.N133T
c.398A>C
1 paper
NM_016180.5
p.N133_P134insC
c.397_401ins3
1 paper
NM_016180.5
p.R135G
c.403A>G
1 paper
NM_016180.5
p.I131V
c.391A>G
2 papers
NM_016180.5
p.L130*
c.389T>A
1 paper
NM_016180.5
p.K137*
c.409A>T
1 paper
NM_016180.5
p.K137T
c.410A>C
4 papers
NM_016180.5
p.A129Splc
c.386-1G>A
1 paper
NM_016180.5
p.V139I
c.415G>A
1 paper
NM_016180.5
p.V139G
c.416T>G
1 paper
NM_016180.5
p.I142L
c.424A>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."