Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.D157N

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
38 papers
NM_016180.5
p.D157N
c.469G>A
Surrounding Variants
3 papers
NM_016180.5
p.D153_D157del0
c.459_470del12
1 paper
NM_016180.5
p.F158S
c.473T>C
2 papers
NM_016180.5
p.A155delFs
c.463delC
2 papers
NM_016180.5
p.F152_D153del2
c.454_458del6
1 paper
NM_016180.5
p.A155S
c.463G>T
1 paper
NM_016180.5
p.D153_F154insFs
c.459_460insT
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.G161R
c.481G>C
16 papers
NM_016180.5
p.D153N
c.457G>A
1 paper
NM_016180.5
p.G161R
c.481G>A
3 papers
NM_016180.5
p.F152L
c.456T>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."