Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.E272K

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
49 papers
NM_016180.5
p.E272K
c.814G>A
Surrounding Variants
1 paper
NM_016180.5
p.I271T
c.812T>C
1 paper
NM_016180.5
p.E272D
c.816G>T
1 paper
NM_016180.5
p.E272D
c.816G>C
1 paper
NM_016180.5
p.K273ins1
c.817_818insGAC
2 papers
NM_016180.5
p.K273insFs
c.817_818insGA
3 papers
NM_016180.5
p.E267_I271del5
c.799_812del15
1 paper
NM_016180.5
p.G269_S270del1
c.806_808delAAC
1 paper
NM_016180.5
p.V274A
c.821T>C
2 papers
NM_016180.5
p.V274D
c.821T>A
5 papers
NM_016180.5
p.G269D
c.806G>A
1 paper
NM_016180.5
p.G269R
c.805G>C
1 paper
NM_016180.5
p.Y268*
c.804T>G
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