Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.L374F

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
58 papers
NM_016180.5
p.L374F
c.1122G>T
Surrounding Variants
1 paper
NM_016180.5
p.L374fs
c.1120_1121fs
61 papers
NM_016180.5
p.L374F
c.1122G>C
2 papers
NM_016180.5
p.L374delFs
c.1121delA
1 paper
NM_016180.5
p.G373D
c.1118G>A
2 papers
NM_016180.5
p.W372*
c.1116G>A
4 papers
NM_016180.5
p.W372*
c.1115G>A
1 paper
NM_016180.5
p.N377I
c.1130A>T
1 paper
NM_016180.5
p.S378C
c.1133C>G
1 paper
NM_016180.5
p.G370E
c.1109G>A
2 papers
NM_016180.5
p.G370R
c.1108G>C
2 papers
NM_016180.5
p.G370R
c.1108G>A
1 paper
NM_016180.5
p.F380L
c.1138T>C
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