Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G116A

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.G116A
c.347G>C
Surrounding Variants
1 paper
NM_016180.5
p.G116D
c.347G>A
1 paper
NM_016180.5
p.G116S
c.346G>A
1 paper
NM_016180.5
p.L114delFs
c.340delG
1 paper
NM_016180.5
p.A118V
c.353C>T
2 papers
NM_016180.5
p.V115_A118del0
c.344_352del9
1 paper
NM_016180.5
p.L109_L119insFs
c.327_355dup29
1 paper
NM_016180.5
p.L121F
c.361C>T
4 papers
NM_016180.5
p.N122S
c.365A>G
8 papers
NM_016180.5
p.G110R
c.328G>C
8 papers
NM_016180.5
p.G110R
c.328G>A
1 paper
NM_016180.5
p.L109R
c.326T>G
1 paper
NM_016180.5
p.G123A
c.368G>C
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