Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.D18E

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.D18E
c.54T>G
Surrounding Variants
1 paper
NM_016180.5
p.D18E
c.54T>A
1 paper
NM_016180.5
p.D18A
c.53A>C
1 paper
NM_016180.5
p.D18delFs
c.52delC
1 paper
NM_016180.5
p.D19G
c.56A>G
1 paper
NM_016180.5
p.D19E
c.57T>A
3 papers
NM_016180.5
p.P21S
c.61C>T
2 papers
NM_016180.5
p.P21L
c.62C>T
1 paper
NM_016180.5
p.K14_P21delFs
c.42_61del20
1 paper
NM_016180.5
p.D23G
c.68A>G
1 paper
NM_016180.5
p.S24P
c.70T>C
1 paper
NM_016180.5
p.D23delFs
c.69delG
1 paper
NM_016180.5
p.Y13C
c.38A>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."