Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.A53E

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.A53E
c.158C>A
Surrounding Variants
1 paper
NM_016180.5
p.A53V
c.158C>T
1 paper
NM_016180.5
p.A53delFs
c.157delC
3 papers
NM_016180.5
p.A53P
c.157G>C
1 paper
NM_016180.5
p.A54V
c.161C>T
5 papers
NM_016180.5
p.V51delFs
c.152_153delCA
1 paper
NM_016180.5
p.Y55D
c.163T>G
1 paper
NM_016180.5
p.Y55N
c.163T>A
1 paper
NM_016180.5
p.Y55fs
c.163_164fs
1 paper
NM_016180.5
p.V51fs
c.151_152fs
1 paper
NM_016180.5
p.Y55C
c.164A>G
1 paper
NM_016180.5
p.A54_Y55insFs
c.162_163ins11
1 paper
NM_016180.5
p.V51L
c.151G>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."