Varaico: Literature-Extracted Genetic Variants

SLC8A1

171 papers

RefSeq Summary

In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due t...

Pfam Domains

Na_Ca_exaa 80–251UCSCSodium/calcium exchanger protein

Na_Ca_ex_Caa 254–390UCSCC-terminal extension of sodium/calcium exchanger domain

Calx-betaaa 402–535UCSCCalx-beta domain

Calx-betaaa 533–651UCSCCalx-beta domain

Na_Ca_exaa 799–964UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 8 member A1

HGNC Previous Symbol

NCX1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_021097.5

p.L150V

c.448C>G

Surrounding Variants

1 paper

NM_021097.5

p.E148D

c.444G>T

1 paper

NM_021097.5

p.E148D

c.444G>C

1 paper

NM_021097.5

p.E148K

c.442G>A

1 paper

NM_021097.5

p.P147S

c.439C>T

1 paper

NM_021097.5

p.G158C

c.472G>T

1 paper

NM_021097.5

p.G158R

c.472G>C

1 paper

NM_021097.5

p.G158D

c.473G>A

2 papers

NM_021097.5

p.M140L

c.418A>T

2 papers

NM_021097.5

p.M140L

c.418A>C

1 paper

NM_021097.5

p.S135F

c.404C>T

1 paper

NM_021097.5

p.D165V

c.494A>T

1 paper

NM_021097.5

p.V134G

c.401T>G