Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.L80L

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.L80L
c.240G>A
Surrounding Variants
1 paper
NM_016180.5
p.L80P
c.239T>C
4 papers
NM_016180.5
p.P78L
c.233C>T
1 paper
NM_016180.5
p.P78R
c.233C>G
1 paper
NM_016180.5
p.L83R
c.248T>G
2 papers
NM_016180.5
p.P78ins1
c.232_233insGGG
1 paper
NM_016180.5
p.P78T
c.232C>A
1 paper
NM_016180.5
p.L83L
c.249G>A
3 papers
NM_016180.5
p.S77N
c.230G>A
1 paper
NM_016180.5
p.L84R
c.251T>G
2 papers
NM_016180.5
p.L84P
c.251T>C
2 papers
NM_016180.5
p.L76L
c.228C>G
1 paper
NM_016180.5
p.L76F
c.226C>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."