Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.Q487*

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
3 papers
NM_016180.5
p.Q487*
c.1459C>T
Surrounding Variants
4 papers
NM_016180.5
p.A486V
c.1457C>T
3 papers
NM_016180.5
p.A486S
c.1456G>T
5 papers
NM_016180.5
p.A486T
c.1456G>A
1 paper
NM_016180.5
p.L485V
c.1453C>G
2 papers
NM_016180.5
p.L489P
c.1466T>C
1 paper
NM_016180.5
p.L489Q
c.1466T>A
2 papers
NM_016180.5
p.L489_V490insFs
c.1467_1468insT
1 paper
NM_016180.5
p.L489insFs
c.1467dupG
6 papers
NM_016180.5
p.G491R
c.1471G>C
6 papers
NM_016180.5
p.G491R
c.1471G>A
1 paper
NM_016180.5
p.T480_C481insFs
c.1440_1441insA
2 papers
NM_016180.5
p.G493D
c.1478G>A
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