Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.F152L

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
3 papers
NM_016180.5
p.F152L
c.456T>A
Surrounding Variants
3 papers
NM_016180.5
p.F152L
c.456T>G
16 papers
NM_016180.5
p.D153N
c.457G>A
3 papers
NM_016180.5
p.F152L
c.454T>C
2 papers
NM_016180.5
p.L151R
c.452T>G
5 papers
NM_016180.5
p.L151P
c.452T>C
1 paper
NM_016180.5
p.A155S
c.463G>T
1 paper
NM_016180.5
p.D153_F154insFs
c.459_460insT
2 papers
NM_016180.5
p.V150I
c.448G>A
2 papers
NM_016180.5
p.A155delFs
c.463delC
2 papers
NM_016180.5
p.F152_D153del2
c.454_458del6
38 papers
NM_016180.5
p.D157N
c.469G>A
2 papers
NM_016180.5
p.G148D
c.443G>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."