Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.A192D

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
4 papers
NM_016180.5
p.A192D
c.575C>A
Surrounding Variants
1 paper
NM_016180.5
p.G191delFs
c.573delA
1 paper
NM_016180.5
p.G191insFs
c.572dupG
1 paper
NM_016180.5
p.G191delFs
c.572delC
2 papers
NM_016180.5
p.G191A
c.572G>C
1 paper
NM_016180.5
p.G191R
c.571G>C
1 paper
NM_016180.5
p.G191S
c.571G>A
1 paper
NM_016180.5
p.G194fs
c.580_581fs
1 paper
NM_016180.5
p.G194S
c.580G>A
1 paper
NM_016180.5
p.G190insFs
c.569_570ins4
1 paper
NM_016180.5
p.G190A
c.569G>C
2 papers
NM_016180.5
p.G194delFs
c.580delC
1 paper
NM_016180.5
p.G190*
c.568G>T
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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."