Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.T187_G188insFs

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.T187_G188insFs
c.561_562ins25
Surrounding Variants
1 paper
NM_016180.5
p.T187_G188insFs
c.561_562ins25
2 papers
NM_016180.5
p.T187insFs
c.560_561ins25
1 paper
NM_016180.5
p.G188Splc
c.562+2T>G
3 papers
NM_016180.5
p.A184V
c.551C>T
1 paper
NM_016180.5
p.A184G
c.551C>G
2 papers
NM_016180.5
p.A184D
c.551C>A
1 paper
NM_016180.5
p.Y182H
c.544T>C
2 papers
NM_016180.5
p.H181R
c.542A>G
1 paper
NM_016180.5
p.L180P
c.539T>C
1 paper
NM_016180.5
p.L180I
c.538C>A
1 paper
NM_016180.5
p.L180fs
c.538_539fs
3 papers
NM_016180.5
p.K178insFs
c.533_534dupAG
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