Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.V170A

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.V170A
c.509T>C
Surrounding Variants
2 papers
NM_016180.5
p.D169del1
c.505_506delATC
1 paper
NM_016180.5
p.S172T
c.514T>A
1 paper
NM_016180.5
p.F168S
c.503T>C
1 paper
NM_016180.5
p.L167insFs
c.500dupT
1 paper
NM_016180.5
p.H173L
c.518A>T
1 paper
NM_016180.5
p.L167fs
c.499_500fs
2 papers
NM_016180.5
p.Y166C
c.497A>G
2 papers
NM_016180.5
p.K164R
c.491A>G
2 papers
NM_016180.5
p.E177*
c.529G>T
1 paper
NM_016180.5
p.I163M
c.489C>G
1 paper
NM_016180.5
p.E177G
c.530A>G
1 paper
NM_016180.5
p.K178insFs
c.532_533insC
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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."