Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.V217A

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.V217A
c.650T>C
Surrounding Variants
1 paper
NM_016180.5
p.V217delFs
c.649delC
1 paper
NM_016180.5
p.M218I
c.654G>A
1 paper
NM_016180.5
p.F221S
c.662T>C
1 paper
NM_016180.5
p.G212V
c.635G>T
1 paper
NM_016180.5
p.G212A
c.635G>C
1 paper
NM_016180.5
p.G212D
c.635G>A
2 papers
NM_016180.5
p.S222Y
c.665C>A
8 papers
NM_016180.5
p.F221del1
c.661_662delGAA
1 paper
NM_016180.5
p.F221_S222del1
c.663_665delGAG
1 paper
NM_016180.5
p.S222del1
c.664_665delAGA
1 paper
NM_016180.5
p.A223E
c.668C>A
1 paper
NM_016180.5
p.Q216_A223delFs
c.647_668del22
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