Varaico: Literature-Extracted Genetic Variants

Gene:SLC9D1
Variant:p.V78A

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.V78A
c.233T>C
Surrounding Variants
1 paper
NM_017905.6
p.Q48Q
c.144G>A
1 paper
NM_017905.6
p.Q48H
c.144G>C
1 paper
NM_017905.6
p.Q48H
c.144G>T
1 paper
NM_017905.6
p.A42V
c.125C>T
1 paper
NM_017905.6
p.V41_A42insFs
c.123_124insCA
1 paper
NM_017905.6
p.V41fs
c.121_122fs
1 paper
NM_017905.6
p.L117L
c.351G>A
1 paper
NM_017905.6
p.G123_D124insCA
c.367_371ins6
1 paper
NM_017905.6
p.H25Y
c.73C>T
1 paper
NM_017905.6
p.V15L
c.43G>C
3 papers
NM_017905.6
p.P14L
c.41C>T
1 paper
NM_017905.6
p.R143G
c.427A>G
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