Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.L228L

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.L228L
c.684G>A
Surrounding Variants
1 paper
NM_016180.5
p.C229fs
c.685_686fs
1 paper
NM_016180.5
p.L228V
c.682T>G
1 paper
NM_016180.5
p.C229insFs
c.686_687ins7
9 papers
NM_016180.5
p.C229Y
c.686G>A
1 paper
NM_016180.5
p.F230C
c.689T>G
1 paper
NM_016180.5
p.V225A
c.674T>C
2 papers
NM_016180.5
p.V232_H233insGGG
c.694_698ins9
1 paper
NM_016180.5
p.V225L
c.673G>T
1 paper
NM_016180.5
p.Q216_A223delFs
c.647_668del22
2 papers
NM_016180.5
p.H233Q
c.699T>G
2 papers
NM_016180.5
p.H233Q
c.699T>A
1 paper
NM_016180.5
p.A223E
c.668C>A
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