Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.E295*

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.E295*
c.883G>T
Surrounding Variants
2 papers
NM_016180.5
p.E295K
c.883G>A
1 paper
NM_016180.5
p.A294G
c.881C>G
2 papers
NM_016180.5
p.A294T
c.880G>A
1 paper
NM_016180.5
p.Q296*
c.886C>T
1 paper
NM_016180.5
p.Q296Q
c.888G>A
2 papers
NM_016180.5
p.Q296_T297Splc
c.888+2T>C
2 papers
NM_016180.5
p.N290delFs
c.870delG
1 paper
NM_016180.5
p.N290insFs
c.869dupA
1 paper
NM_016180.5
p.N290S
c.869A>G
1 paper
NM_016180.5
p.A288A
c.864A>T
1 paper
NM_016180.5
p.Q296_T297Splc
c.888+14A>G
1 paper
NM_016180.5
p.G287*
c.859G>T
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