Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A2
Variant:p.Q198R

SLC30A2

78 papers

RefSeq Summary

The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoform...

Pfam Domains

Cation_effluxaa 74–278UCSCCation efflux transmembrane domain
ZT_dimeraa 282–357UCSCCation efflux protein, cytoplasmic domain

Gene Aliases

HGNC Name

solute carrier family 30 member 2

HGNC Previous Symbol

ZNT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001004434.3
p.Q198R
c.593A>G
Surrounding Variants
1 paper
NM_001004434.3
p.Q198P
c.593A>C
2 papers
NM_001004434.3
p.H197R
c.590A>G
1 paper
NM_001004434.3
p.G202W
c.604G>T
1 paper
NM_001004434.3
p.G193E
c.578G>A
1 paper
NM_001004434.3
p.S204N
c.611G>A
2 papers
NM_001004434.3
p.H205D
c.613C>G
1 paper
NM_001004434.3
p.T207T
c.621C>T
2 papers
NM_001004434.3
p.Q211*
c.631C>T
1 paper
NM_001004434.3
p.E212E
c.636G>A
1 paper
NM_001004434.3
p.E213Q
c.637G>C
1 paper
NM_001004434.3
p.E213del1
c.637_638delCTC
1 paper
NM_001004434.3
p.N214insFs
c.641_642ins10
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