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.I531V

c.1591A>G

Surrounding Variants

1 paper

NM_021097.5

p.F532L

c.1594T>C

1 paper

NM_021097.5

p.F532L

c.1596T>G

1 paper

NM_021097.5

p.F532L

c.1596T>A

1 paper

NM_021097.5

p.T526S

c.1577C>G

1 paper

NM_021097.5

p.T526S

c.1576A>T

1 paper

NM_021097.5

p.S525T

c.1573T>A

1 paper

NM_021097.5

p.G522E

c.1565G>A

1 paper

NM_021097.5

p.L521L

c.1563C>T

1 paper

NM_021097.5

p.A519P

c.1555G>C

1 paper

NM_021097.5

p.S516A

c.1546T>G

1 paper

NM_021097.5

p.S516T

c.1546T>A

1 paper

NM_021097.5

p.H514N

c.1540C>A