Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.V369fs

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.V369fs
c.1105_1106fs
Surrounding Variants
1 paper
NM_016180.5
p.G366_E368del0
c.1096_1104del9
2 papers
NM_016180.5
p.G370R
c.1108G>C
6 papers
NM_016180.5
p.E368K
c.1102G>A
2 papers
NM_016180.5
p.G370R
c.1108G>A
1 paper
NM_016180.5
p.G370E
c.1109G>A
2 papers
NM_016180.5
p.V367I
c.1099G>A
1 paper
NM_016180.5
p.G366V
c.1097G>T
1 paper
NM_016180.5
p.G366E
c.1097G>A
3 papers
NM_016180.5
p.G366R
c.1096G>C
3 papers
NM_016180.5
p.G366R
c.1096G>A
4 papers
NM_016180.5
p.W372*
c.1115G>A
2 papers
NM_016180.5
p.W372*
c.1116G>A
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