Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.V88delFs

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
15 papers
NM_016180.5
p.V88delFs
c.264delG
Surrounding Variants
8 papers
NM_016180.5
p.G89R
c.265G>C
8 papers
NM_016180.5
p.G89R
c.265G>A
6 papers
NM_016180.5
p.G89fs
c.265_266fs
1 paper
NM_016180.5
p.G89fs
c.265_266fs
3 papers
NM_016180.5
p.S90fs
c.268_269fs
1 paper
NM_016180.5
p.S90L
c.269C>T
4 papers
NM_016180.5
p.S90fs
c.268_269fs
1 paper
NM_016180.5
p.S90S
c.270G>A
2 papers
NM_016180.5
p.V87fs
c.259_260fs
2 papers
NM_016180.5
p.P86delFs
c.258delG
1 paper
NM_016180.5
p.A91V
c.272C>T
1 paper
NM_016180.5
p.P86P
c.258C>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."