Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.V506V

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
3 papers
NM_016180.5
p.V506V
c.1518C>T
Surrounding Variants
17 papers
NM_016180.5
p.V507L
c.1519G>T
18 papers
NM_016180.5
p.V507L
c.1519G>C
1 paper
NM_016180.5
p.V508L
c.1522G>T
1 paper
NM_016180.5
p.V505_V507del3
c.1513_1520del9
1 paper
NM_016180.5
p.V504F
c.1510G>T
2 papers
NM_016180.5
p.V504I
c.1510G>A
4 papers
NM_016180.5
p.T503fs
c.1507_1508fs
3 papers
NM_016180.5
p.G502delFs
c.1506delC
2 papers
NM_016180.5
p.G502Fs
c.1505_1506delinsCFs
1 paper
NM_016180.5
p.G502R
c.1504G>A
2 papers
NM_016180.5
p.G502fs
c.1504_1505fs
5 papers
NM_016180.5
p.A511V
c.1532C>T
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