Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.N356K

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.N356K
c.1068C>G
Surrounding Variants
4 papers
NM_016180.5
p.N356K
c.1068C>A
1 paper
NM_016180.5
p.E359fs
c.1075_1076fs
1 paper
NM_016180.5
p.S353_A354delFs
c.1057_1060del4
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
1 paper
NM_016180.5
p.L361L
c.1083C>A
1 paper
NM_016180.5
p.D350insFs
c.1049dupA
1 paper
NM_016180.5
p.D350N
c.1048G>A
1 paper
NM_016180.5
p.G349V
c.1046G>T
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