Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.K247*

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
5 papers
NM_016180.5
p.K247*
c.739A>T
Surrounding Variants
2 papers
NM_016180.5
p.A246delFs
c.737delG
2 papers
NM_016180.5
p.A246fs
c.736_737fs
1 paper
NM_016180.5
p.G248V
c.743G>T
2 papers
NM_016180.5
p.P250L
c.749C>T
1 paper
NM_016180.5
p.T243A
c.727A>G
1 paper
NM_016180.5
p.L242P
c.725T>C
1 paper
NM_016180.5
p.P241insFs
c.723dupA
1 paper
NM_016180.5
p.E239delFs
c.717delT
1 paper
NM_016180.5
p.P255S
c.763C>T
1 paper
NM_016180.5
p.Q256*
c.766C>T
1 paper
NM_016180.5
p.D257V
c.770A>T
1 paper
NM_016180.5
p.S236I
c.707G>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."