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

1 paper

NM_021097.5

p.P227S

c.679C>T

Surrounding Variants

1 paper

NM_021097.5

p.P227L

c.680C>T

1 paper

NM_021097.5

p.L222F

c.666G>T

1 paper

NM_021097.5

p.L222F

c.666G>C

1 paper

NM_021097.5

p.E234*

c.700G>T

1 paper

NM_021097.5

p.Y219D

c.655T>G

1 paper

NM_021097.5

p.L218P

c.653T>C

1 paper

NM_021097.5

p.L218F

c.652C>T

1 paper

NM_021097.5

p.L218I

c.652C>A

1 paper

NM_021097.5

p.L237R

c.710T>G

1 paper

NM_021097.5

p.F213L

c.639T>G

1 paper

NM_021097.5

p.F213L

c.639T>A

1 paper

NM_021097.5

p.F213C

c.638T>G