Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.D201Y

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.D201Y
c.601G>T
Surrounding Variants
1 paper
NM_016180.5
p.D201N
c.601G>A
1 paper
NM_016180.5
p.D201G
c.602A>G
1 paper
NM_016180.5
p.D201delFs
c.601delC
1 paper
NM_016180.5
p.I200T
c.599T>C
14 papers
NM_016180.5
p.W202C
c.606G>T
14 papers
NM_016180.5
p.W202C
c.606G>C
1 paper
NM_016180.5
p.A199T
c.595G>A
1 paper
NM_016180.5
p.A203V
c.608C>T
6 papers
NM_016180.5
p.G198D
c.593G>A
2 papers
NM_016180.5
p.L205M
c.613C>A
1 paper
NM_016180.5
p.E206K
c.616G>A
1 paper
NM_016180.5
p.Y195S
c.584A>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."