Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.I36del1

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.I36del1
c.106_107delGAT
Surrounding Variants
5 papers
NM_016180.5
p.H38R
c.113A>G
1 paper
NM_016180.5
p.S39C
c.115A>T
2 papers
NM_016180.5
p.S39N
c.116G>A
1 paper
NM_016180.5
p.I36L
c.106A>C
1 paper
NM_016180.5
p.L35_I36delins
c.104_106delinsGAC
1 paper
NM_016180.5
p.L35R
c.104T>G
1 paper
NM_016180.5
p.L35H
c.104T>A
1 paper
NM_016180.5
p.M40V
c.118A>G
1 paper
NM_016180.5
p.A41T
c.121G>A
4 papers
NM_016180.5
p.M42T
c.125T>C
6 papers
NM_016180.5
p.M42I
c.126G>T
6 papers
NM_016180.5
p.M42I
c.126G>C
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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."