Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.P58S

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
6 papers
NM_016180.5
p.P58S
c.172C>T
Surrounding Variants
4 papers
NM_016180.5
p.P58A
c.172C>G
1 paper
NM_016180.5
p.T57T
c.171C>T
2 papers
NM_016180.5
p.P58R
c.173C>G
3 papers
NM_016180.5
p.T57I
c.170C>T
1 paper
NM_016180.5
p.V56_P58del0
c.168_173del6
1 paper
NM_016180.5
p.V59I
c.175G>A
1 paper
NM_016180.5
p.V59G
c.176T>G
2 papers
NM_016180.5
p.V56V
c.168G>T
5 papers
NM_016180.5
p.L60R
c.179T>G
1 paper
NM_016180.5
p.Y55C
c.164A>G
1 paper
NM_016180.5
p.A54_Y55insFs
c.162_163ins11
1 paper
NM_016180.5
p.Y55D
c.163T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."