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.F303L

c.909C>A

Surrounding Variants

1 paper

NM_021097.5

p.F303L

c.909C>G

1 paper

NM_021097.5

p.F303L

c.907T>C

1 paper

NM_021097.5

p.D305N

c.913G>A

1 paper

NM_021097.5

p.E301*

c.901G>T

1 paper

NM_021097.5

p.G306D

c.917G>A

1 paper

NM_021097.5

p.L308V

c.922C>G

1 paper

NM_021097.5

p.I289V

c.865A>G

1 paper

NM_021097.5

p.A322D

c.965C>A

1 paper

NM_021097.5

p.S284F

c.851C>T

2 papers

NM_021097.5

p.R324*

c.970C>T

1 paper

NM_021097.5

p.E325Q

c.973G>C

1 paper

NM_021097.5

p.E325K

c.973G>A