Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G212A

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.G212A
c.635G>C
Surrounding Variants
1 paper
NM_016180.5
p.G212V
c.635G>T
1 paper
NM_016180.5
p.G212D
c.635G>A
1 paper
NM_016180.5
p.L210L
c.628C>T
1 paper
NM_016180.5
p.V217A
c.650T>C
1 paper
NM_016180.5
p.L207Q
c.620T>A
1 paper
NM_016180.5
p.V217delFs
c.649delC
2 papers
NM_016180.5
p.L207V
c.619C>G
1 paper
NM_016180.5
p.L207M
c.619C>A
1 paper
NM_016180.5
p.M218I
c.654G>A
1 paper
NM_016180.5
p.E206K
c.616G>A
2 papers
NM_016180.5
p.L205M
c.613C>A
1 paper
NM_016180.5
p.F221S
c.662T>C
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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."