Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.H94D

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
4 papers
NM_016180.5
p.H94D
c.280C>G
Surrounding Variants
2 papers
NM_016180.5
p.C95R
c.283T>C
5 papers
NM_016180.5
p.D93N
c.277G>A
1 paper
NM_016180.5
p.C95W
c.285C>G
2 papers
NM_016180.5
p.R96insFs
c.286_287insA
3 papers
NM_016180.5
p.S92fs
c.274_275fs
2 papers
NM_016180.5
p.S92G
c.274A>G
3 papers
NM_016180.5
p.A91delFs
c.273delG
2 papers
NM_016180.5
p.S90_S92Fs
c.269_274delinsGCFs
1 paper
NM_016180.5
p.R96P
c.287G>C
1 paper
NM_016180.5
p.A91V
c.272C>T
3 papers
NM_016180.5
p.G89_A91delFs
c.267_271del5
1 paper
NM_016180.5
p.S97T
c.289T>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."