Varaico: Literature-Extracted Genetic Variants

Gene:SLC8A2
Variant:p.D598Y

SLC8A2

68 papers

Pfam Domains

Na_Ca_exaa 74–245UCSCSodium/calcium exchanger protein
Na_Ca_ex_Caa 248–379UCSCC-terminal extension of sodium/calcium exchanger domain
Calx-betaaa 388–520UCSCCalx-beta domain
Calx-betaaa 518–632UCSCCalx-beta domain
Na_Ca_exaa 747–912UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 8 member A2

HGNC Alias Symbols

NCX2; KIAA1087

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015063.3
p.D598Y
c.1792G>T
Surrounding Variants
1 paper
NM_015063.3
p.Y601N
c.1801T>A
1 paper
NM_015063.3
p.R619*
c.1855C>T
1 paper
NM_015063.3
p.S702S
c.2106C>T
1 paper
NM_015063.3
p.V514F
c.1540G>T
1 paper
NM_015063.3
p.R501L
c.1502G>T
1 paper
NM_015063.3
p.G499S
c.1495G>A
2 papers
NM_015063.3
p.G465D
c.1394G>A
1 paper
NM_015063.3
p.E706D
c.2118G>T
1 paper
NM_015063.3
p.E706D
c.2118G>C
1 paper
NM_015063.3
p.E710fs
c.2128_2129fs
5 papers
NM_015063.3
p.E710del1
c.2128_2129delCTC
2 papers
NM_015063.3
p.E710_D711del2
c.2128_2132del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."