Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.I72delFs

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.I72delFs
c.216delA
Surrounding Variants
5 papers
NM_016180.5
p.V73L
c.217G>T
5 papers
NM_016180.5
p.V73L
c.217G>C
1 paper
NM_016180.5
p.V73M
c.217G>A
1 paper
NM_016180.5
p.I72M
c.216T>G
1 paper
NM_016180.5
p.I72I
c.216T>A
1 paper
NM_016180.5
p.I72T
c.215T>C
2 papers
NM_016180.5
p.W74_F75insT
c.220_224ins3
2 papers
NM_016180.5
p.W74R
c.220T>C
2 papers
NM_016180.5
p.W74R
c.220T>A
1 paper
NM_016180.5
p.W74S
c.221G>C
1 paper
NM_016180.5
p.W74C
c.222G>T
1 paper
NM_016180.5
p.W74C
c.222G>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."