Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.D466V

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.D466V
c.1397A>T
Surrounding Variants
1 paper
NM_016180.5
p.P465insFs
c.1393_1394insT
1 paper
NM_016180.5
p.V469delFs
c.1405delC
2 papers
NM_016180.5
p.G462_G463insFs
c.1386_1387insAA
2 papers
NM_016180.5
p.Q459_R470del12
c.1375_1409del36
4 papers
NM_016180.5
p.G473S
c.1417G>A
4 papers
NM_016180.5
p.G473D
c.1418G>A
1 paper
NM_016180.5
p.Q459*
c.1375C>T
1 paper
NM_016180.5
p.Q459_A460insT
c.1375_1379ins3
2 papers
NM_016180.5
p.C476G
c.1426T>G
5 papers
NM_016180.5
p.A477T
c.1429G>A
6 papers
NM_016180.5
p.A477V
c.1430C>T
1 paper
NM_016180.5
p.D475_T478delFs
c.1423_1433del11
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