Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.T480_C481insFs

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.T480_C481insFs
c.1440_1441insA
Surrounding Variants
1 paper
NM_016180.5
p.D475_T478delFs
c.1423_1433del11
6 papers
NM_016180.5
p.A477V
c.1430C>T
5 papers
NM_016180.5
p.A477T
c.1429G>A
1 paper
NM_016180.5
p.L485V
c.1453C>G
2 papers
NM_016180.5
p.C476G
c.1426T>G
3 papers
NM_016180.5
p.A486S
c.1456G>T
5 papers
NM_016180.5
p.A486T
c.1456G>A
4 papers
NM_016180.5
p.A486V
c.1457C>T
3 papers
NM_016180.5
p.Q487*
c.1459C>T
4 papers
NM_016180.5
p.G473D
c.1418G>A
4 papers
NM_016180.5
p.G473S
c.1417G>A
2 papers
NM_016180.5
p.L489P
c.1466T>C
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