Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G188D

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
3 papers
NM_016180.5
p.G188D
c.563G>A
Surrounding Variants
9 papers
NM_016180.5
p.G188V
c.563G>T
1 paper
NM_016180.5
p.G188Splc
c.563-1G>C
1 paper
NM_016180.5
p.G188Splc
c.563-1G>A
1 paper
NM_016180.5
p.G188Splc
c.563-3C>G
1 paper
NM_016180.5
p.G190*
c.568G>T
1 paper
NM_016180.5
p.G190R
c.568G>C
1 paper
NM_016180.5
p.G190R
c.568G>A
2 papers
NM_016180.5
p.G190fs
c.568_569fs
1 paper
NM_016180.5
p.G190insFs
c.569_570ins4
1 paper
NM_016180.5
p.G190A
c.569G>C
2 papers
NM_016180.5
p.G188Splc
c.563-7T>A
1 paper
NM_016180.5
p.G191R
c.571G>C
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