Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.C519S

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
2 papers
NM_016180.5
p.C519S
c.1555T>A
Surrounding Variants
1 paper
NM_016180.5
p.C519R
c.1555T>C
2 papers
NM_016180.5
p.C519S
c.1556G>C
3 papers
NM_016180.5
p.G518R
c.1552G>C
4 papers
NM_016180.5
p.A523T
c.1567G>A
1 paper
NM_016180.5
p.A513E
c.1538C>A
1 paper
NM_016180.5
p.A513T
c.1537G>A
1 paper
NM_016180.5
p.A523_F525insFs
c.1567_1574dup8
5 papers
NM_016180.5
p.A511V
c.1532C>T
10 papers
NM_016180.5
p.A511E
c.1532C>A
1 paper
NM_016180.5
p.A511delins
c.1531_1532delinsCA
1 paper
NM_016180.5
p.R527I
c.1580G>T
1 paper
NM_016180.5
p.V505_V507del3
c.1513_1520del9
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