Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.D257V

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.D257V
c.770A>T
Surrounding Variants
1 paper
NM_016180.5
p.Q256*
c.766C>T
1 paper
NM_016180.5
p.P259insFs
c.775_776insG
1 paper
NM_016180.5
p.P255S
c.763C>T
1 paper
NM_016180.5
p.S262A
c.784T>G
1 paper
NM_016180.5
p.S262L
c.785C>T
2 papers
NM_016180.5
p.P250L
c.749C>T
1 paper
NM_016180.5
p.L260_G264del0
c.780_791del12
3 papers
NM_016180.5
p.M265L
c.793A>T
2 papers
NM_016180.5
p.M265L
c.793A>C
1 paper
NM_016180.5
p.G248V
c.743G>T
1 paper
NM_016180.5
p.Y266C
c.797A>G
2 papers
NM_016180.5
p.Y266*
c.798C>G
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