Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G2D

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.G2D
c.5G>A
Surrounding Variants
1 paper
NM_016180.5
p.G2R
c.4G>C
1 paper
NM_016180.5
p.M1I
c.3G>T
2 papers
NM_016180.5
p.M1insFs
c.2dupT
1 paper
NM_016180.5
p.M1fs
c.1_2fs
1 paper
NM_016180.5
p.M1I
c.3G>C
1 paper
NM_016180.5
p.M1I
c.3G>A
1 paper
NM_016180.5
p.M1insFs
c.1dupA
1 paper
NM_016180.5
p.M1R
c.2T>G
1 paper
NM_016180.5
p.M1T
c.2T>C
1 paper
NM_016180.5
p.M1K
c.2T>A
3 papers
NM_016180.5
p.M1V
c.1A>G
1 paper
NM_016180.5
p.R10H
c.29G>A
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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."