Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.P162H

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.P162H
c.485C>A
Surrounding Variants
1 paper
NM_016180.5
p.P162_I163ins11
c.484_488ins33
1 paper
NM_016180.5
p.G161R
c.481G>C
1 paper
NM_016180.5
p.G161R
c.481G>A
1 paper
NM_016180.5
p.I163M
c.489C>G
2 papers
NM_016180.5
p.K164R
c.491A>G
1 paper
NM_016180.5
p.D160Y
c.478G>T
20 papers
NM_016180.5
p.D160H
c.478G>C
1 paper
NM_016180.5
p.F158S
c.473T>C
2 papers
NM_016180.5
p.Y166C
c.497A>G
3 papers
NM_016180.5
p.D153_D157del0
c.459_470del12
1 paper
NM_016180.5
p.L167fs
c.499_500fs
38 papers
NM_016180.5
p.D157N
c.469G>A
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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."