Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G110R

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
8 papers
NM_016180.5
p.G110R
c.328G>C
Surrounding Variants
8 papers
NM_016180.5
p.G110R
c.328G>A
1 paper
NM_016180.5
p.L109R
c.326T>G
1 paper
NM_016180.5
p.L107F
c.319C>T
1 paper
NM_016180.5
p.L114delFs
c.340delG
1 paper
NM_016180.5
p.G116S
c.346G>A
2 papers
NM_016180.5
p.P104S
c.310C>T
1 paper
NM_016180.5
p.G116A
c.347G>C
1 paper
NM_016180.5
p.G116D
c.347G>A
1 paper
NM_016180.5
p.R102P
c.305G>C
2 papers
NM_016180.5
p.R102Q
c.305G>A
3 papers
NM_016180.5
p.R102W
c.304C>T
1 paper
NM_016180.5
p.A118V
c.353C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."