Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.R274W

SLC18A2

163 papers

RefSeq Summary

This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neuro...

Pfam Domains

MFS_1aa 22–425UCSCMajor Facilitator Superfamily
MFS_1aa 300–482UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 18 member A2

HGNC Previous Symbol

VMAT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003054.6
p.R274W
c.820C>T
Surrounding Variants
1 paper
NM_003054.6
p.P272P
c.816G>A
1 paper
NM_003054.6
p.P272S
c.814C>T
1 paper
NM_003054.6
p.L270F
c.808C>T
1 paper
NM_003054.6
p.A264Splc
c.791-42C>A
2 papers
NM_003054.6
p.S279delFs
c.835_836delAG
1 paper
NM_003054.6
p.E278_S279Splc
c.835-1G>C
1 paper
NM_003054.6
p.Q280fs
c.838_839fs
1 paper
NM_003054.6
p.Q280L
c.839A>T
1 paper
NM_003054.6
p.T283R
c.848C>G
2 papers
NM_003054.6
p.P292_L295delFs
c.876_883del8
2 papers
NM_003054.6
p.Y293fs
c.877_878fs
1 paper
NM_003054.6
p.D262D
c.786T>C
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