Varaico: Literature-Extracted Genetic Variants

Gene:SLC9D1
Variant:p.E542K

SLC9D1

48 papers

RefSeq Summary

This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassi...

Pfam Domains

Na_H_Exchangeraa 278–661UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member D1

HGNC Previous Symbols

C13orf11; TMCO3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017905.6
p.E542K
c.1624G>A
Surrounding Variants
1 paper
NM_017905.6
p.V533I
c.1597G>A
1 paper
NM_017905.6
p.R552H
c.1655G>A
1 paper
NM_017905.6
p.E516V
c.1547A>T
1 paper
NM_017905.6
p.L481I
c.1441C>A
1 paper
NM_017905.6
p.L472V
c.1414C>G
1 paper
NM_017905.6
p.A469fs
c.1405_1406fs
1 paper
NM_017905.6
p.I460F
c.1378A>T
1 paper
NM_017905.6
p.R455Q
c.1364G>A
1 paper
NM_017905.6
p.E452K
c.1354G>A
1 paper
NM_017905.6
p.V567M
c.1699G>A
1 paper
NM_017905.6
p.T570M
c.1709C>T
1 paper
NM_017905.6
p.F581delFs
c.1743delC
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