Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A2
Variant:p.D548E

SLC24A2

78 papers

RefSeq Summary

This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2...

Pfam Domains

Na_Ca_exaa 138–282UCSCSodium/calcium exchanger protein
Na_Ca_exaa 498–649UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 24 member 2

HGNC Alias Symbol

NCKX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_020344.4
p.D548E
c.1644T>G
Surrounding Variants
3 papers
NM_020344.4
p.D548E
c.1644T>A
5 papers
NM_020344.4
p.D548N
c.1642G>A
2 papers
NM_020344.4
p.P547A
c.1639C>G
1 paper
NM_020344.4
p.I550M
c.1650C>G
1 paper
NM_020344.4
p.T551A
c.1651A>G
1 paper
NM_020344.4
p.I546V
c.1636A>G
4 papers
NM_020344.4
p.S545C
c.1634C>G
2 papers
NM_020344.4
p.S552C
c.1654A>T
4 papers
NM_020344.4
p.S545A
c.1633T>G
2 papers
NM_020344.4
p.S545T
c.1633T>A
3 papers
NM_020344.4
p.S552T
c.1655G>C
1 paper
NM_020344.4
p.V553L
c.1657G>C
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