Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G349R

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
13 papers
NM_016180.5
p.G349R
c.1045G>A
Surrounding Variants
12 papers
NM_016180.5
p.G349R
c.1045G>C
1 paper
NM_016180.5
p.G349V
c.1046G>T
1 paper
NM_016180.5
p.R348H
c.1043G>A
1 paper
NM_016180.5
p.D350N
c.1048G>A
4 papers
NM_016180.5
p.R348C
c.1042C>T
1 paper
NM_016180.5
p.D350insFs
c.1049dupA
1 paper
NM_016180.5
p.Y347S
c.1040A>C
5 papers
NM_016180.5
p.V346L
c.1036G>T
4 papers
NM_016180.5
p.V346L
c.1036G>C
2 papers
NM_016180.5
p.I345F
c.1033A>T
1 paper
NM_016180.5
p.Q344_I345Splc
c.1033-2A>T
1 paper
NM_016180.5
p.S353_A354delFs
c.1057_1060del4
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