Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.E359fs

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.E359fs
c.1075_1076fs
Surrounding Variants
1 paper
NM_016180.5
p.E359V
c.1076A>T
1 paper
NM_016180.5
p.T358_E359insFs
c.1072_1075dup4
1 paper
NM_016180.5
p.F360I
c.1078T>A
2 papers
NM_016180.5
p.E359delFs
c.1076_1077delCT
7 papers
NM_016180.5
p.L361P
c.1082T>C
4 papers
NM_016180.5
p.N356K
c.1068C>G
4 papers
NM_016180.5
p.N356K
c.1068C>A
1 paper
NM_016180.5
p.L361L
c.1083C>A
1 paper
NM_016180.5
p.S353_A354delFs
c.1057_1060del4
1 paper
NM_016180.5
p.E364E
c.1092A>G
3 papers
NM_016180.5
p.G366R
c.1096G>C
3 papers
NM_016180.5
p.G366R
c.1096G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."